Canonical Allele Identifier: CA935529451

Gene: ABCC8

Linked Data

• dbSNP Id: rs1954533290
• gnomAD v3: 11-17406557-G-A
• gnomAD v4: 11-17406557-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406557G>A , CM000673.2:g.17406557G>A	GRCh38
NC_000011.9:g.17428104G>A , CM000673.1:g.17428104G>A	GRCh37
NC_000011.8:g.17384680G>A	NCBI36
NG_008867.1:g.75346C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2898+65C>T
ENST00000529967.6:n.1668+65C>T
ENST00000532220.2:n.1061+65C>T
ENST00000642611.2:n.3398+65C>T
ENST00000645004.2:n.828+65C>T
ENST00000682051.1:n.3345+65C>T
ENST00000682110.1:n.3398+65C>T
ENST00000682140.1:c.3326+65C>T	ENSP00000507829.1:n.3326+65C>T
ENST00000682185.1:n.4634+65C>T
ENST00000682204.1:c.*1467+65C>T	ENSP00000507094.1:n.*1467+65C>T
ENST00000682215.1:n.3395+65C>T
ENST00000682288.1:c.*1760+65C>T	ENSP00000507506.1:n.*1760+65C>T
ENST00000682442.1:n.3618+65C>T
ENST00000682528.1:n.3475+65C>T
ENST00000682673.1:n.3342+65C>T
ENST00000682805.1:n.3395+65C>T
ENST00000682965.1:c.3326+65C>T	ENSP00000508229.1:n.3326+65C>T
ENST00000683093.1:n.3497+65C>T
ENST00000683136.1:c.3326+65C>T	ENSP00000507768.1:n.3326+65C>T
ENST00000683153.1:n.3554+65C>T
ENST00000683365.1:n.3500+65C>T
ENST00000683377.1:n.3398+65C>T
ENST00000683456.1:c.*466+65C>T	ENSP00000508318.1:n.*466+65C>T
ENST00000683522.1:n.3398+65C>T
ENST00000683562.1:c.*1498+65C>T	ENSP00000508265.1:n.*1498+65C>T
ENST00000683693.1:n.3475+65C>T
ENST00000683725.1:c.3329+65C>T	ENSP00000507496.1:n.3329+65C>T
ENST00000684010.1:n.3393+65C>T
ENST00000684157.1:n.3398+65C>T
ENST00000684253.1:n.3301+65C>T
ENST00000684288.1:c.*1501+65C>T	ENSP00000507143.1:n.*1501+65C>T
ENST00000684313.1:n.2830+65C>T
ENST00000684332.1:n.3471+65C>T
ENST00000684371.1:n.3504+65C>T
ENST00000684404.1:n.3441+65C>T
ENST00000684442.1:n.3398+65C>T
ENST00000684555.1:c.*1541+65C>T	ENSP00000507705.1:n.*1541+65C>T
ENST00000684571.1:c.3170+65C>T	ENSP00000506935.1:n.3170+65C>T
ENST00000684593.1:c.*3034+65C>T	ENSP00000507005.1:n.*3034+65C>T
ENST00000684711.1:c.*1725+65C>T	ENSP00000506841.1:n.*1725+65C>T
ENST00000302539.9:c.3332+65C>T	ENSP00000303960.4:n.3332+65C>T
ENST00000389817.8:c.3329+65C>T MANE Select	ENSP00000374467.4:n.3329+65C>T
ENST00000642271.1:c.3326+65C>T	ENSP00000493749.1:n.3326+65C>T
ENST00000642579.1:c.1413+65C>T
ENST00000642611.1:n.3283+65C>T
ENST00000642902.1:c.3111+65C>T
ENST00000643260.1:c.3329+65C>T	ENSP00000494450.1:n.3329+65C>T
ENST00000643562.1:c.*1305+65C>T	ENSP00000496124.1:n.*1305+65C>T
ENST00000643925.1:c.1453+65C>T
ENST00000644447.1:c.1685+65C>T	ENSP00000496282.1:n.1685+65C>T
ENST00000644484.1:c.*1584+65C>T	ENSP00000493558.1:n.*1584+65C>T
ENST00000644542.1:c.*3198C>T	ENSP00000495532.1:n.*3198C>T
ENST00000644675.1:c.*1501+65C>T	ENSP00000494567.1:n.*1501+65C>T
ENST00000644757.1:c.*1614+65C>T	ENSP00000495085.1:n.*1614+65C>T
ENST00000644772.1:c.3395+65C>T	ENSP00000494321.1:n.3395+65C>T
ENST00000645004.1:n.468+65C>T
ENST00000645076.1:c.2528+65C>T
ENST00000645417.1:c.495+65C>T
ENST00000645744.1:c.*1593+65C>T	ENSP00000494564.1:n.*1593+65C>T
ENST00000645760.1:c.3604+65C>T
ENST00000645884.1:c.*466+65C>T	ENSP00000495516.1:n.*466+65C>T
ENST00000646003.1:c.*1285+65C>T	ENSP00000495259.1:n.*1285+65C>T
ENST00000646207.1:c.*1796+65C>T	ENSP00000495025.1:n.*1796+65C>T
ENST00000646276.1:c.*1602+65C>T	ENSP00000496070.1:n.*1602+65C>T
ENST00000646592.1:c.2635+65C>T
ENST00000646902.1:c.3326+65C>T	ENSP00000494101.1:n.3326+65C>T
ENST00000646993.1:c.*1725+65C>T	ENSP00000493720.1:n.*1725+65C>T
ENST00000647013.1:c.3335+65C>T	ENSP00000496741.1:n.3335+65C>T
ENST00000647015.1:c.3080+65C>T	ENSP00000495389.1:n.3080+65C>T
ENST00000647086.1:c.*3059+65C>T	ENSP00000493677.1:n.*3059+65C>T
ENST00000647158.1:c.*1470+65C>T	ENSP00000495744.1:n.*1470+65C>T
ENST00000302539.8:c.3332+65C>T	ENSP00000303960.4:n.3332+65C>T
ENST00000389817.7:c.3329+65C>T	ENSP00000374467.3:n.3329+65C>T
ENST00000524561.1:n.461+65C>T
ENST00000527905.5:c.*205+65C>T	ENSP00000431653.1:n.*205+65C>T
NM_000352.4:c.3329+65C>T	NP_000343.2:n.3329+65C>T
NM_001287174.1:c.3332+65C>T	NP_001274103.1:n.3332+65C>T
XM_011520331.1:c.3329+65C>T	XP_011518633.1:n.3329+65C>T
XM_011520332.1:c.3332+65C>T	XP_011518634.1:n.3332+65C>T
XM_011520333.1:c.1829+65C>T	XP_011518635.1:n.1829+65C>T
XR_930890.1:n.3395+65C>T
XR_930891.1:n.3397+63C>T
XR_930892.1:n.3295+65C>T
XR_930893.1:n.3292+65C>T
NM_001351295.1:c.3395+65C>T	NP_001338224.1:n.3395+65C>T
NM_001351296.1:c.3329+65C>T	NP_001338225.1:n.3329+65C>T
NM_001351297.1:c.3326+65C>T	NP_001338226.1:n.3326+65C>T
NR_147094.1:n.3478+65C>T
XM_017018197.2:c.3398+65C>T	XP_016873686.1:n.3398+65C>T
XM_017018199.1:c.3395+65C>T	XP_016873688.1:n.3395+65C>T
XM_017018201.2:c.3398+65C>T	XP_016873690.1:n.3398+65C>T
XM_017018202.1:c.1895+65C>T	XP_016873691.1:n.1895+65C>T
XM_017018204.1:c.1286+65C>T	XP_016873693.1:n.1286+65C>T
XM_024448668.1:c.1697+65C>T	XP_024304436.1:n.1697+65C>T
XR_001747945.2:n.3470+65C>T
XR_001747946.2:n.3401+65C>T
XR_002957189.1:n.3550+65C>T
NM_000352.6:c.3329+65C>T MANE Select	NP_000343.2:n.3329+65C>T
NM_001287174.2:c.3332+65C>T	NP_001274103.1:n.3332+65C>T
NM_001351295.2:c.3395+65C>T	NP_001338224.1:n.3395+65C>T
NM_001351296.2:c.3329+65C>T	NP_001338225.1:n.3329+65C>T
NM_001351297.2:c.3326+65C>T	NP_001338226.1:n.3326+65C>T
NR_147094.2:n.3478+65C>T
NM_001287174.3:c.3332+65C>T	NP_001274103.1:n.3332+65C>T