Canonical Allele Identifier: CA1955131375

Gene: ABCC8

Linked Data

• dbSNP Id: rs545221450
• gnomAD v4: 11-17412809-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17412809C>T , CM000673.2:g.17412809C>T	GRCh38
NC_000011.9:g.17434356C>T , CM000673.1:g.17434356C>T	GRCh37
NC_000011.8:g.17390932C>T	NCBI36
NG_008867.1:g.69094G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2145-63G>A
ENST00000529967.6:n.735-63G>A
ENST00000642611.2:n.2545-63G>A
ENST00000682051.1:n.2492-63G>A
ENST00000682110.1:n.2545-63G>A
ENST00000682140.1:c.2473-63G>A	ENSP00000507829.1:n.2473-63G>A
ENST00000682185.1:n.3781-63G>A
ENST00000682204.1:c.*614-63G>A	ENSP00000507094.1:n.*614-63G>A
ENST00000682215.1:n.2542-63G>A
ENST00000682288.1:c.*907-63G>A	ENSP00000507506.1:n.*907-63G>A
ENST00000682442.1:n.2666-63G>A
ENST00000682528.1:n.2542-63G>A
ENST00000682673.1:n.2489-63G>A
ENST00000682805.1:n.2542-63G>A
ENST00000682965.1:c.2473-63G>A	ENSP00000508229.1:n.2473-63G>A
ENST00000683093.1:n.2644-63G>A
ENST00000683136.1:c.2473-63G>A	ENSP00000507768.1:n.2473-63G>A
ENST00000683153.1:n.2701-63G>A
ENST00000683365.1:n.2647-63G>A
ENST00000683377.1:n.2545-63G>A
ENST00000683456.1:c.2476-63G>A	ENSP00000508318.1:n.2476-63G>A
ENST00000683522.1:n.2545-63G>A
ENST00000683562.1:c.*645-63G>A	ENSP00000508265.1:n.*645-63G>A
ENST00000683693.1:n.2542-63G>A
ENST00000683725.1:c.2476-63G>A	ENSP00000507496.1:n.2476-63G>A
ENST00000684010.1:n.2460-63G>A
ENST00000684157.1:n.2545-63G>A
ENST00000684253.1:n.2448-63G>A
ENST00000684288.1:c.*648-63G>A	ENSP00000507143.1:n.*648-63G>A
ENST00000684313.1:n.1977-63G>A
ENST00000684332.1:n.2618-63G>A
ENST00000684371.1:n.2651-63G>A
ENST00000684404.1:n.2542-63G>A
ENST00000684442.1:n.2545-63G>A
ENST00000684555.1:c.*688-63G>A	ENSP00000507705.1:n.*688-63G>A
ENST00000684571.1:c.2317-63G>A	ENSP00000506935.1:n.2317-63G>A
ENST00000684593.1:c.*2181-63G>A	ENSP00000507005.1:n.*2181-63G>A
ENST00000684711.1:c.*872-63G>A	ENSP00000506841.1:n.*872-63G>A
ENST00000302539.9:c.2479-63G>A	ENSP00000303960.4:n.2479-63G>A
ENST00000389817.8:c.2476-63G>A MANE Select	ENSP00000374467.4:n.2476-63G>A
ENST00000642271.1:c.2473-63G>A	ENSP00000493749.1:n.2473-63G>A
ENST00000642579.1:c.560-63G>A
ENST00000642611.1:n.2430-63G>A
ENST00000642902.1:c.2311-63G>A
ENST00000643260.1:c.2476-63G>A	ENSP00000494450.1:n.2476-63G>A
ENST00000643562.1:c.*452-63G>A	ENSP00000496124.1:n.*452-63G>A
ENST00000643925.1:c.520-63G>A
ENST00000644447.1:c.832-63G>A	ENSP00000496282.1:n.832-63G>A
ENST00000644472.1:c.*837-63G>A	ENSP00000495378.1:n.*837-63G>A
ENST00000644484.1:c.*685-63G>A	ENSP00000493558.1:n.*685-63G>A
ENST00000644542.1:c.*2181-63G>A	ENSP00000495532.1:n.*2181-63G>A
ENST00000644675.1:c.*648-63G>A	ENSP00000494567.1:n.*648-63G>A
ENST00000644757.1:c.*781-63G>A	ENSP00000495085.1:n.*781-63G>A
ENST00000644772.1:c.2542-63G>A	ENSP00000494321.1:n.2542-63G>A
ENST00000645076.1:c.1728-63G>A
ENST00000645744.1:c.*840-63G>A	ENSP00000494564.1:n.*840-63G>A
ENST00000645760.1:c.2751-63G>A
ENST00000645884.1:c.2476-63G>A	ENSP00000495516.1:n.2476-63G>A
ENST00000646003.1:c.*532-63G>A	ENSP00000495259.1:n.*532-63G>A
ENST00000646207.1:c.*840-63G>A	ENSP00000495025.1:n.*840-63G>A
ENST00000646276.1:c.*749-63G>A	ENSP00000496070.1:n.*749-63G>A
ENST00000646592.1:c.1702-63G>A
ENST00000646902.1:c.2473-63G>A	ENSP00000494101.1:n.2473-63G>A
ENST00000646993.1:c.*872-63G>A	ENSP00000493720.1:n.*872-63G>A
ENST00000647013.1:c.2482-63G>A	ENSP00000496741.1:n.2482-63G>A
ENST00000647015.1:c.2227-63G>A	ENSP00000495389.1:n.2227-63G>A
ENST00000647086.1:c.*2206-63G>A	ENSP00000493677.1:n.*2206-63G>A
ENST00000647158.1:c.*617-63G>A	ENSP00000495744.1:n.*617-63G>A
ENST00000302539.8:c.2479-63G>A	ENSP00000303960.4:n.2479-63G>A
ENST00000389817.7:c.2476-63G>A	ENSP00000374467.3:n.2476-63G>A
ENST00000526921.5:n.160-63G>A
ENST00000527905.5:c.2446-63G>A	ENSP00000431653.1:n.2446-63G>A
ENST00000529967.5:n.145-63G>A
ENST00000530147.5:n.59-63G>A
ENST00000531911.1:n.590-63G>A
NM_000352.4:c.2476-63G>A	NP_000343.2:n.2476-63G>A
NM_001287174.1:c.2479-63G>A	NP_001274103.1:n.2479-63G>A
XM_011520331.1:c.2476-63G>A	XP_011518633.1:n.2476-63G>A
XM_011520332.1:c.2479-63G>A	XP_011518634.1:n.2479-63G>A
XM_011520333.1:c.976-63G>A	XP_011518635.1:n.976-63G>A
XM_011520334.1:c.2479-63G>A	XP_011518636.1:n.2479-63G>A
XR_930890.1:n.2542-63G>A
XR_930891.1:n.2542-63G>A
XR_930892.1:n.2542-63G>A
XR_930893.1:n.2539-63G>A
NM_001351295.1:c.2542-63G>A	NP_001338224.1:n.2542-63G>A
NM_001351296.1:c.2476-63G>A	NP_001338225.1:n.2476-63G>A
NM_001351297.1:c.2473-63G>A	NP_001338226.1:n.2473-63G>A
NR_147094.1:n.2545-63G>A
XM_017018197.2:c.2545-63G>A	XP_016873686.1:n.2545-63G>A
XM_017018199.1:c.2542-63G>A	XP_016873688.1:n.2542-63G>A
XM_017018201.2:c.2545-63G>A	XP_016873690.1:n.2545-63G>A
XM_017018202.1:c.1042-63G>A	XP_016873691.1:n.1042-63G>A
XM_017018204.1:c.433-63G>A	XP_016873693.1:n.433-63G>A
XM_024448668.1:c.844-63G>A	XP_024304436.1:n.844-63G>A
XR_001747945.2:n.2617-63G>A
XR_001747946.2:n.2548-63G>A
XR_002957189.1:n.2617-63G>A
NM_000352.6:c.2476-63G>A MANE Select	NP_000343.2:n.2476-63G>A
NM_001287174.2:c.2479-63G>A	NP_001274103.1:n.2479-63G>A
NM_001351295.2:c.2542-63G>A	NP_001338224.1:n.2542-63G>A
NM_001351296.2:c.2476-63G>A	NP_001338225.1:n.2476-63G>A
NM_001351297.2:c.2473-63G>A	NP_001338226.1:n.2473-63G>A
NR_147094.2:n.2545-63G>A
NM_001287174.3:c.2479-63G>A	NP_001274103.1:n.2479-63G>A