Canonical Allele Identifier: CA379807734

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17434286T>G (hg19) ; chr11:g.17412739T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17412739T>G , CM000673.2:g.17412739T>G	GRCh38
NC_000011.9:g.17434286T>G , CM000673.1:g.17434286T>G	GRCh37
NC_000011.8:g.17390862T>G	NCBI36
NG_008867.1:g.69164A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2152A>C
ENST00000529967.6:n.742A>C
ENST00000642611.2:n.2552A>C
ENST00000682051.1:n.2499A>C
ENST00000682110.1:n.2552A>C
ENST00000682140.1:c.2480A>C	ENSP00000507829.1:p.Asn827Thr
ENST00000682185.1:n.3788A>C
ENST00000682204.1:c.*621A>C	ENSP00000507094.1:n.*621A>C
ENST00000682215.1:n.2549A>C
ENST00000682288.1:c.*914A>C	ENSP00000507506.1:n.*914A>C
ENST00000682442.1:n.2673A>C
ENST00000682528.1:n.2549A>C
ENST00000682673.1:n.2496A>C
ENST00000682805.1:n.2549A>C
ENST00000682965.1:c.2480A>C	ENSP00000508229.1:p.Asn827Thr
ENST00000683093.1:n.2651A>C
ENST00000683136.1:c.2480A>C	ENSP00000507768.1:p.Asn827Thr
ENST00000683153.1:n.2708A>C
ENST00000683365.1:n.2654A>C
ENST00000683377.1:n.2552A>C
ENST00000683456.1:c.2483A>C	ENSP00000508318.1:p.Asn828Thr
ENST00000683522.1:n.2552A>C
ENST00000683562.1:c.*652A>C	ENSP00000508265.1:n.*652A>C
ENST00000683693.1:n.2549A>C
ENST00000683725.1:c.2483A>C	ENSP00000507496.1:p.Asn828Thr
ENST00000684010.1:n.2467A>C
ENST00000684157.1:n.2552A>C
ENST00000684253.1:n.2455A>C
ENST00000684288.1:c.*655A>C	ENSP00000507143.1:n.*655A>C
ENST00000684313.1:n.1984A>C
ENST00000684332.1:n.2625A>C
ENST00000684371.1:n.2658A>C
ENST00000684404.1:n.2549A>C
ENST00000684442.1:n.2552A>C
ENST00000684555.1:c.*695A>C	ENSP00000507705.1:n.*695A>C
ENST00000684571.1:c.2324A>C	ENSP00000506935.1:p.Asn775Thr
ENST00000684593.1:c.*2188A>C	ENSP00000507005.1:n.*2188A>C
ENST00000684711.1:c.*879A>C	ENSP00000506841.1:n.*879A>C
ENST00000302539.9:c.2486A>C	ENSP00000303960.4:p.Asn829Thr
ENST00000389817.8:c.2483A>C MANE Select	ENSP00000374467.4:p.Asn828Thr
ENST00000642271.1:c.2480A>C	ENSP00000493749.1:p.Asn827Thr
ENST00000642579.1:c.567A>C
ENST00000642611.1:n.2437A>C
ENST00000642902.1:c.2318A>C
ENST00000643260.1:c.2483A>C	ENSP00000494450.1:p.Asn828Thr
ENST00000643562.1:c.*459A>C	ENSP00000496124.1:n.*459A>C
ENST00000643925.1:c.527A>C
ENST00000644447.1:c.839A>C	ENSP00000496282.1:p.Asn280Thr
ENST00000644472.1:c.*844A>C	ENSP00000495378.1:n.*844A>C
ENST00000644484.1:c.*692A>C	ENSP00000493558.1:n.*692A>C
ENST00000644542.1:c.*2188A>C	ENSP00000495532.1:n.*2188A>C
ENST00000644675.1:c.*655A>C	ENSP00000494567.1:n.*655A>C
ENST00000644757.1:c.*788A>C	ENSP00000495085.1:n.*788A>C
ENST00000644772.1:c.2549A>C	ENSP00000494321.1:p.Asn850Thr
ENST00000645076.1:c.1735A>C
ENST00000645744.1:c.*847A>C	ENSP00000494564.1:n.*847A>C
ENST00000645760.1:c.2758A>C
ENST00000645884.1:c.2483A>C	ENSP00000495516.1:p.Asn828Thr
ENST00000646003.1:c.*539A>C	ENSP00000495259.1:n.*539A>C
ENST00000646207.1:c.*847A>C	ENSP00000495025.1:n.*847A>C
ENST00000646276.1:c.*756A>C	ENSP00000496070.1:n.*756A>C
ENST00000646592.1:c.1709A>C
ENST00000646902.1:c.2480A>C	ENSP00000494101.1:p.Asn827Thr
ENST00000646993.1:c.*879A>C	ENSP00000493720.1:n.*879A>C
ENST00000647013.1:c.2489A>C	ENSP00000496741.1:n.2489A>C
ENST00000647015.1:c.2234A>C	ENSP00000495389.1:p.Asn745Thr
ENST00000647086.1:c.*2213A>C	ENSP00000493677.1:n.*2213A>C
ENST00000647158.1:c.*624A>C	ENSP00000495744.1:n.*624A>C
ENST00000302539.8:c.2486A>C	ENSP00000303960.4:p.Asn829Thr
ENST00000389817.7:c.2483A>C	ENSP00000374467.3:p.Asn828Thr
ENST00000526921.5:n.167A>C
ENST00000527905.5:c.2453A>C	ENSP00000431653.1:p.Asn818Thr
ENST00000529967.5:n.152A>C
ENST00000530147.5:n.66A>C
ENST00000531911.1:n.597A>C
NM_000352.4:c.2483A>C	NP_000343.2:p.Asn828Thr
NM_001287174.1:c.2486A>C	NP_001274103.1:p.Asn829Thr
XM_011520331.1:c.2483A>C	XP_011518633.1:p.Asn828Thr
XM_011520332.1:c.2486A>C	XP_011518634.1:p.Asn829Thr
XM_011520333.1:c.983A>C	XP_011518635.1:p.Asn328Thr
XM_011520334.1:c.2486A>C	XP_011518636.1:p.Asn829Thr
XR_930890.1:n.2549A>C
XR_930891.1:n.2549A>C
XR_930892.1:n.2549A>C
XR_930893.1:n.2546A>C
NM_001351295.1:c.2549A>C	NP_001338224.1:p.Asn850Thr
NM_001351296.1:c.2483A>C	NP_001338225.1:p.Asn828Thr
NM_001351297.1:c.2480A>C	NP_001338226.1:p.Asn827Thr
NR_147094.1:n.2552A>C
XM_017018197.2:c.2552A>C	XP_016873686.1:p.Asn851Thr
XM_017018199.1:c.2549A>C	XP_016873688.1:p.Asn850Thr
XM_017018201.2:c.2552A>C	XP_016873690.1:p.Asn851Thr
XM_017018202.1:c.1049A>C	XP_016873691.1:p.Asn350Thr
XM_017018204.1:c.440A>C	XP_016873693.1:p.Asn147Thr
XM_024448668.1:c.851A>C	XP_024304436.1:p.Asn284Thr
XR_001747945.2:n.2624A>C
XR_001747946.2:n.2555A>C
XR_002957189.1:n.2624A>C
NM_000352.6:c.2483A>C MANE Select	NP_000343.2:p.Asn828Thr
NM_001287174.2:c.2486A>C	NP_001274103.1:p.Asn829Thr
NM_001351295.2:c.2549A>C	NP_001338224.1:p.Asn850Thr
NM_001351296.2:c.2483A>C	NP_001338225.1:p.Asn828Thr
NM_001351297.2:c.2480A>C	NP_001338226.1:p.Asn827Thr
NR_147094.2:n.2552A>C
NM_001287174.3:c.2486A>C	NP_001274103.1:p.Asn829Thr