Canonical Allele Identifier: CA218417447

Gene: ABCC8

Linked Data

• dbSNP Id: rs56945577
• MyVariant Identifiers: chr11:g.17426180T>A (hg19) ; chr11:g.17404633T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17404633T>A , CM000673.2:g.17404633T>A	GRCh38
NC_000011.9:g.17426180T>A , CM000673.1:g.17426180T>A	GRCh37
NC_000011.8:g.17382756T>A	NCBI36
NG_008867.1:g.77270A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3005A>T
ENST00000528374.2:c.15A>T
ENST00000529967.6:n.1775A>T
ENST00000532220.2:n.1168A>T
ENST00000642611.2:n.3505A>T
ENST00000645004.2:n.935A>T
ENST00000682051.1:n.3452A>T
ENST00000682110.1:n.3505A>T
ENST00000682140.1:c.3433A>T	ENSP00000507829.1:p.Thr1145Ser
ENST00000682185.1:n.4741A>T
ENST00000682204.1:c.*1574A>T	ENSP00000507094.1:n.*1574A>T
ENST00000682215.1:n.3502A>T
ENST00000682288.1:c.*1867A>T	ENSP00000507506.1:n.*1867A>T
ENST00000682442.1:n.3725A>T
ENST00000682528.1:n.3582A>T
ENST00000682673.1:n.3449A>T
ENST00000682805.1:n.3502A>T
ENST00000682965.1:c.3396+861A>T	ENSP00000508229.1:n.3396+861A>T
ENST00000683093.1:n.3604A>T
ENST00000683136.1:c.3433A>T	ENSP00000507768.1:p.Thr1145Ser
ENST00000683153.1:n.3661A>T
ENST00000683365.1:n.3607A>T
ENST00000683377.1:n.3505A>T
ENST00000683456.1:c.*573A>T	ENSP00000508318.1:n.*573A>T
ENST00000683522.1:n.3505A>T
ENST00000683562.1:c.*1605A>T	ENSP00000508265.1:n.*1605A>T
ENST00000683693.1:n.3582A>T
ENST00000683725.1:c.3436A>T	ENSP00000507496.1:p.Thr1146Ser
ENST00000684010.1:n.3500A>T
ENST00000684157.1:n.3505A>T
ENST00000684253.1:n.3408A>T
ENST00000684288.1:c.*1608A>T	ENSP00000507143.1:n.*1608A>T
ENST00000684313.1:n.2937A>T
ENST00000684332.1:n.3578A>T
ENST00000684371.1:n.3611A>T
ENST00000684404.1:n.3548A>T
ENST00000684442.1:n.3505A>T
ENST00000684555.1:c.*1648A>T	ENSP00000507705.1:n.*1648A>T
ENST00000684571.1:c.3277A>T	ENSP00000506935.1:p.Thr1093Ser
ENST00000684593.1:c.*3141A>T	ENSP00000507005.1:n.*3141A>T
ENST00000684711.1:c.*1832A>T	ENSP00000506841.1:n.*1832A>T
ENST00000302539.9:c.3439A>T	ENSP00000303960.4:p.Thr1147Ser
ENST00000389817.8:c.3436A>T MANE Select	ENSP00000374467.4:p.Thr1146Ser
ENST00000642271.1:c.3433A>T	ENSP00000493749.1:p.Thr1145Ser
ENST00000642579.1:c.1520A>T
ENST00000642611.1:n.3390A>T
ENST00000642902.1:c.3218A>T
ENST00000643260.1:c.3436A>T	ENSP00000494450.1:p.Thr1146Ser
ENST00000643562.1:c.*1412A>T	ENSP00000496124.1:n.*1412A>T
ENST00000643925.1:c.1560A>T
ENST00000644447.1:c.1792A>T	ENSP00000496282.1:p.Thr598Ser
ENST00000644484.1:c.*1691A>T	ENSP00000493558.1:n.*1691A>T
ENST00000644675.1:c.*1608A>T	ENSP00000494567.1:n.*1608A>T
ENST00000644757.1:c.*1721A>T	ENSP00000495085.1:n.*1721A>T
ENST00000644772.1:c.3502A>T	ENSP00000494321.1:p.Thr1168Ser
ENST00000645004.1:n.575A>T
ENST00000645076.1:c.2635A>T
ENST00000645417.1:c.602A>T
ENST00000645744.1:c.*1700A>T	ENSP00000494564.1:n.*1700A>T
ENST00000645760.1:c.3711A>T
ENST00000645884.1:c.*573A>T	ENSP00000495516.1:n.*573A>T
ENST00000646003.1:c.*1392A>T	ENSP00000495259.1:n.*1392A>T
ENST00000646207.1:c.*1903A>T	ENSP00000495025.1:n.*1903A>T
ENST00000646276.1:c.*1709A>T	ENSP00000496070.1:n.*1709A>T
ENST00000646592.1:c.2742A>T
ENST00000646902.1:c.3433A>T	ENSP00000494101.1:p.Thr1145Ser
ENST00000646993.1:c.*1832A>T	ENSP00000493720.1:n.*1832A>T
ENST00000647013.1:c.3442A>T	ENSP00000496741.1:n.3442A>T
ENST00000647015.1:c.3187A>T	ENSP00000495389.1:p.Thr1063Ser
ENST00000647086.1:c.*3166A>T	ENSP00000493677.1:n.*3166A>T
ENST00000647158.1:c.*1577A>T	ENSP00000495744.1:n.*1577A>T
ENST00000302539.8:c.3439A>T	ENSP00000303960.4:p.Thr1147Ser
ENST00000389817.7:c.3436A>T	ENSP00000374467.3:p.Thr1146Ser
ENST00000524561.1:n.568A>T
ENST00000527905.5:c.*312A>T	ENSP00000431653.1:n.*312A>T
NM_000352.4:c.3436A>T	NP_000343.2:p.Thr1146Ser
NM_001287174.1:c.3439A>T	NP_001274103.1:p.Thr1147Ser
XM_011520331.1:c.3436A>T	XP_011518633.1:p.Thr1146Ser
XM_011520332.1:c.3439A>T	XP_011518634.1:p.Thr1147Ser
XM_011520333.1:c.1936A>T	XP_011518635.1:p.Thr646Ser
XR_930890.1:n.3502A>T
XR_930892.1:n.3402A>T
XR_930893.1:n.3399A>T
NM_001351295.1:c.3502A>T	NP_001338224.1:p.Thr1168Ser
NM_001351296.1:c.3436A>T	NP_001338225.1:p.Thr1146Ser
NM_001351297.1:c.3433A>T	NP_001338226.1:p.Thr1145Ser
NR_147094.1:n.3585A>T
XM_017018197.2:c.3505A>T	XP_016873686.1:p.Thr1169Ser
XM_017018199.1:c.3502A>T	XP_016873688.1:p.Thr1168Ser
XM_017018201.2:c.3505A>T	XP_016873690.1:p.Thr1169Ser
XM_017018202.1:c.2002A>T	XP_016873691.1:p.Thr668Ser
XM_017018204.1:c.1393A>T	XP_016873693.1:p.Thr465Ser
XM_024448668.1:c.1804A>T	XP_024304436.1:p.Thr602Ser
XR_001747945.2:n.3577A>T
XR_001747946.2:n.3508A>T
XR_002957189.1:n.3657A>T
NM_000352.6:c.3436A>T MANE Select	NP_000343.2:p.Thr1146Ser
NM_001287174.2:c.3439A>T	NP_001274103.1:p.Thr1147Ser
NM_001351295.2:c.3502A>T	NP_001338224.1:p.Thr1168Ser
NM_001351296.2:c.3436A>T	NP_001338225.1:p.Thr1146Ser
NM_001351297.2:c.3433A>T	NP_001338226.1:p.Thr1145Ser
NR_147094.2:n.3585A>T
NM_001287174.3:c.3439A>T	NP_001274103.1:p.Thr1147Ser