Canonical Allele Identifier: CA379803015

Gene: ABCC8

Linked Data

• dbSNP Id: rs1236939235
• gnomAD v2: 11-17428331-C-T
• gnomAD v4: 11-17406784-C-T
• MyVariant Identifiers: chr11:g.17428331C>T (hg19) ; chr11:g.17406784C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406784C>T , CM000673.2:g.17406784C>T	GRCh38
NC_000011.9:g.17428331C>T , CM000673.1:g.17428331C>T	GRCh37
NC_000011.8:g.17384907C>T	NCBI36
NG_008867.1:g.75119G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2736G>A
ENST00000529967.6:n.1506G>A
ENST00000532220.2:n.899G>A
ENST00000642611.2:n.3236G>A
ENST00000645004.2:n.666G>A
ENST00000682051.1:n.3183G>A
ENST00000682110.1:n.3236G>A
ENST00000682140.1:c.3164G>A	ENSP00000507829.1:p.Cys1055Tyr
ENST00000682185.1:n.4472G>A
ENST00000682204.1:c.*1305G>A	ENSP00000507094.1:n.*1305G>A
ENST00000682215.1:n.3233G>A
ENST00000682288.1:c.*1598G>A	ENSP00000507506.1:n.*1598G>A
ENST00000682442.1:n.3456G>A
ENST00000682528.1:n.3313G>A
ENST00000682673.1:n.3180G>A
ENST00000682805.1:n.3233G>A
ENST00000682965.1:c.3164G>A	ENSP00000508229.1:p.Cys1055Tyr
ENST00000683093.1:n.3335G>A
ENST00000683136.1:c.3164G>A	ENSP00000507768.1:p.Cys1055Tyr
ENST00000683153.1:n.3392G>A
ENST00000683365.1:n.3338G>A
ENST00000683377.1:n.3236G>A
ENST00000683456.1:c.*304G>A	ENSP00000508318.1:n.*304G>A
ENST00000683522.1:n.3236G>A
ENST00000683562.1:c.*1336G>A	ENSP00000508265.1:n.*1336G>A
ENST00000683693.1:n.3313G>A
ENST00000683725.1:c.3167G>A	ENSP00000507496.1:p.Cys1056Tyr
ENST00000684010.1:n.3231G>A
ENST00000684157.1:n.3236G>A
ENST00000684253.1:n.3139G>A
ENST00000684288.1:c.*1339G>A	ENSP00000507143.1:n.*1339G>A
ENST00000684313.1:n.2668G>A
ENST00000684332.1:n.3309G>A
ENST00000684371.1:n.3342G>A
ENST00000684404.1:n.3279G>A
ENST00000684442.1:n.3236G>A
ENST00000684555.1:c.*1379G>A	ENSP00000507705.1:n.*1379G>A
ENST00000684571.1:c.3008G>A	ENSP00000506935.1:p.Cys1003Tyr
ENST00000684593.1:c.*2872G>A	ENSP00000507005.1:n.*2872G>A
ENST00000684711.1:c.*1563G>A	ENSP00000506841.1:n.*1563G>A
ENST00000302539.9:c.3170G>A	ENSP00000303960.4:p.Cys1057Tyr
ENST00000389817.8:c.3167G>A MANE Select	ENSP00000374467.4:p.Cys1056Tyr
ENST00000642271.1:c.3164G>A	ENSP00000493749.1:p.Cys1055Tyr
ENST00000642579.1:c.1251G>A
ENST00000642611.1:n.3121G>A
ENST00000642902.1:c.2949G>A
ENST00000643260.1:c.3167G>A	ENSP00000494450.1:p.Cys1056Tyr
ENST00000643562.1:c.*1143G>A	ENSP00000496124.1:n.*1143G>A
ENST00000643925.1:c.1291G>A
ENST00000644447.1:c.1523G>A	ENSP00000496282.1:p.Cys508Tyr
ENST00000644484.1:c.*1422G>A	ENSP00000493558.1:n.*1422G>A
ENST00000644542.1:c.*2971G>A	ENSP00000495532.1:n.*2971G>A
ENST00000644675.1:c.*1339G>A	ENSP00000494567.1:n.*1339G>A
ENST00000644757.1:c.*1452G>A	ENSP00000495085.1:n.*1452G>A
ENST00000644772.1:c.3233G>A	ENSP00000494321.1:p.Cys1078Tyr
ENST00000645004.1:n.306G>A
ENST00000645076.1:c.2366G>A
ENST00000645417.1:c.333G>A
ENST00000645744.1:c.*1431G>A	ENSP00000494564.1:n.*1431G>A
ENST00000645760.1:c.3442G>A
ENST00000645884.1:c.*304G>A	ENSP00000495516.1:n.*304G>A
ENST00000646003.1:c.*1123G>A	ENSP00000495259.1:n.*1123G>A
ENST00000646207.1:c.*1634G>A	ENSP00000495025.1:n.*1634G>A
ENST00000646276.1:c.*1440G>A	ENSP00000496070.1:n.*1440G>A
ENST00000646592.1:c.2473G>A
ENST00000646902.1:c.3164G>A	ENSP00000494101.1:p.Cys1055Tyr
ENST00000646993.1:c.*1563G>A	ENSP00000493720.1:n.*1563G>A
ENST00000647013.1:c.3173G>A	ENSP00000496741.1:n.3173G>A
ENST00000647015.1:c.2918G>A	ENSP00000495389.1:p.Cys973Tyr
ENST00000647086.1:c.*2897G>A	ENSP00000493677.1:n.*2897G>A
ENST00000647158.1:c.*1308G>A	ENSP00000495744.1:n.*1308G>A
ENST00000302539.8:c.3170G>A	ENSP00000303960.4:p.Cys1057Tyr
ENST00000389817.7:c.3167G>A	ENSP00000374467.3:p.Cys1056Tyr
ENST00000524561.1:n.299G>A
ENST00000526921.5:n.851G>A
ENST00000527905.5:c.*43G>A	ENSP00000431653.1:n.*43G>A
NM_000352.4:c.3167G>A	NP_000343.2:p.Cys1056Tyr
NM_001287174.1:c.3170G>A	NP_001274103.1:p.Cys1057Tyr
XM_011520331.1:c.3167G>A	XP_011518633.1:p.Cys1056Tyr
XM_011520332.1:c.3170G>A	XP_011518634.1:p.Cys1057Tyr
XM_011520333.1:c.1667G>A	XP_011518635.1:p.Cys556Tyr
XR_930890.1:n.3233G>A
XR_930891.1:n.3233G>A
XR_930892.1:n.3133G>A
XR_930893.1:n.3130G>A
NM_001351295.1:c.3233G>A	NP_001338224.1:p.Cys1078Tyr
NM_001351296.1:c.3167G>A	NP_001338225.1:p.Cys1056Tyr
NM_001351297.1:c.3164G>A	NP_001338226.1:p.Cys1055Tyr
NR_147094.1:n.3316G>A
XM_017018197.2:c.3236G>A	XP_016873686.1:p.Cys1079Tyr
XM_017018199.1:c.3233G>A	XP_016873688.1:p.Cys1078Tyr
XM_017018201.2:c.3236G>A	XP_016873690.1:p.Cys1079Tyr
XM_017018202.1:c.1733G>A	XP_016873691.1:p.Cys578Tyr
XM_017018204.1:c.1124G>A	XP_016873693.1:p.Cys375Tyr
XM_024448668.1:c.1535G>A	XP_024304436.1:p.Cys512Tyr
XR_001747945.2:n.3308G>A
XR_001747946.2:n.3239G>A
XR_002957189.1:n.3388G>A
NM_000352.6:c.3167G>A MANE Select	NP_000343.2:p.Cys1056Tyr
NM_001287174.2:c.3170G>A	NP_001274103.1:p.Cys1057Tyr
NM_001351295.2:c.3233G>A	NP_001338224.1:p.Cys1078Tyr
NM_001351296.2:c.3167G>A	NP_001338225.1:p.Cys1056Tyr
NM_001351297.2:c.3164G>A	NP_001338226.1:p.Cys1055Tyr
NR_147094.2:n.3316G>A
NM_001287174.3:c.3170G>A	NP_001274103.1:p.Cys1057Tyr