Canonical Allele Identifier: CA379798053

Gene: ABCC8

Linked Data

• dbSNP Id: rs1954419271
• gnomAD v4: 11-17404585-C-T
• MyVariant Identifiers: chr11:g.17426132C>T (hg19) ; chr11:g.17404585C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17404585C>T , CM000673.2:g.17404585C>T	GRCh38
NC_000011.9:g.17426132C>T , CM000673.1:g.17426132C>T	GRCh37
NC_000011.8:g.17382708C>T	NCBI36
NG_008867.1:g.77318G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3053G>A
ENST00000528374.2:c.63G>A
ENST00000529967.6:n.1823G>A
ENST00000532220.2:n.1216G>A
ENST00000642611.2:n.3553G>A
ENST00000645004.2:n.983G>A
ENST00000682051.1:n.3500G>A
ENST00000682110.1:n.3553G>A
ENST00000682140.1:c.3481G>A	ENSP00000507829.1:p.Val1161Met
ENST00000682185.1:n.4789G>A
ENST00000682204.1:c.*1622G>A	ENSP00000507094.1:n.*1622G>A
ENST00000682215.1:n.3550G>A
ENST00000682288.1:c.*1915G>A	ENSP00000507506.1:n.*1915G>A
ENST00000682442.1:n.3773G>A
ENST00000682528.1:n.3630G>A
ENST00000682673.1:n.3497G>A
ENST00000682805.1:n.3550G>A
ENST00000682965.1:c.3396+909G>A	ENSP00000508229.1:n.3396+909G>A
ENST00000683093.1:n.3652G>A
ENST00000683136.1:c.3481G>A	ENSP00000507768.1:p.Val1161Met
ENST00000683153.1:n.3709G>A
ENST00000683365.1:n.3655G>A
ENST00000683377.1:n.3553G>A
ENST00000683456.1:c.*621G>A	ENSP00000508318.1:n.*621G>A
ENST00000683522.1:n.3553G>A
ENST00000683562.1:c.*1653G>A	ENSP00000508265.1:n.*1653G>A
ENST00000683693.1:n.3630G>A
ENST00000683725.1:c.3484G>A	ENSP00000507496.1:p.Val1162Met
ENST00000684010.1:n.3548G>A
ENST00000684157.1:n.3553G>A
ENST00000684253.1:n.3456G>A
ENST00000684288.1:c.*1656G>A	ENSP00000507143.1:n.*1656G>A
ENST00000684313.1:n.2985G>A
ENST00000684332.1:n.3626G>A
ENST00000684371.1:n.3659G>A
ENST00000684404.1:n.3596G>A
ENST00000684442.1:n.3553G>A
ENST00000684555.1:c.*1696G>A	ENSP00000507705.1:n.*1696G>A
ENST00000684571.1:c.3325G>A	ENSP00000506935.1:p.Val1109Met
ENST00000684593.1:c.*3189G>A	ENSP00000507005.1:n.*3189G>A
ENST00000684711.1:c.*1880G>A	ENSP00000506841.1:n.*1880G>A
ENST00000302539.9:c.3487G>A	ENSP00000303960.4:p.Val1163Met
ENST00000389817.8:c.3484G>A MANE Select	ENSP00000374467.4:p.Val1162Met
ENST00000642271.1:c.3481G>A	ENSP00000493749.1:p.Val1161Met
ENST00000642579.1:c.1568G>A
ENST00000642611.1:n.3438G>A
ENST00000642902.1:c.3266G>A
ENST00000643260.1:c.3484G>A	ENSP00000494450.1:p.Val1162Met
ENST00000643562.1:c.*1460G>A	ENSP00000496124.1:n.*1460G>A
ENST00000643925.1:c.1608G>A
ENST00000644447.1:c.1840G>A	ENSP00000496282.1:p.Val614Met
ENST00000644484.1:c.*1739G>A	ENSP00000493558.1:n.*1739G>A
ENST00000644675.1:c.*1656G>A	ENSP00000494567.1:n.*1656G>A
ENST00000644757.1:c.*1769G>A	ENSP00000495085.1:n.*1769G>A
ENST00000644772.1:c.3550G>A	ENSP00000494321.1:p.Val1184Met
ENST00000645004.1:n.623G>A
ENST00000645076.1:c.2683G>A
ENST00000645417.1:c.650G>A
ENST00000645744.1:c.*1748G>A	ENSP00000494564.1:n.*1748G>A
ENST00000645760.1:c.3759G>A
ENST00000645884.1:c.*621G>A	ENSP00000495516.1:n.*621G>A
ENST00000646003.1:c.*1440G>A	ENSP00000495259.1:n.*1440G>A
ENST00000646207.1:c.*1951G>A	ENSP00000495025.1:n.*1951G>A
ENST00000646276.1:c.*1757G>A	ENSP00000496070.1:n.*1757G>A
ENST00000646592.1:c.2790G>A
ENST00000646902.1:c.3481G>A	ENSP00000494101.1:p.Val1161Met
ENST00000646993.1:c.*1880G>A	ENSP00000493720.1:n.*1880G>A
ENST00000647013.1:c.3490G>A	ENSP00000496741.1:n.3490G>A
ENST00000647015.1:c.3235G>A	ENSP00000495389.1:p.Val1079Met
ENST00000647086.1:c.*3214G>A	ENSP00000493677.1:n.*3214G>A
ENST00000647158.1:c.*1625G>A	ENSP00000495744.1:n.*1625G>A
ENST00000302539.8:c.3487G>A	ENSP00000303960.4:p.Val1163Met
ENST00000389817.7:c.3484G>A	ENSP00000374467.3:p.Val1162Met
ENST00000524561.1:n.616G>A
ENST00000527905.5:c.*360G>A	ENSP00000431653.1:n.*360G>A
NM_000352.4:c.3484G>A	NP_000343.2:p.Val1162Met
NM_001287174.1:c.3487G>A	NP_001274103.1:p.Val1163Met
XM_011520331.1:c.3484G>A	XP_011518633.1:p.Val1162Met
XM_011520332.1:c.3487G>A	XP_011518634.1:p.Val1163Met
XM_011520333.1:c.1984G>A	XP_011518635.1:p.Val662Met
XR_930890.1:n.3550G>A
XR_930892.1:n.3450G>A
XR_930893.1:n.3447G>A
NM_001351295.1:c.3550G>A	NP_001338224.1:p.Val1184Met
NM_001351296.1:c.3484G>A	NP_001338225.1:p.Val1162Met
NM_001351297.1:c.3481G>A	NP_001338226.1:p.Val1161Met
NR_147094.1:n.3633G>A
XM_017018197.2:c.3553G>A	XP_016873686.1:p.Val1185Met
XM_017018199.1:c.3550G>A	XP_016873688.1:p.Val1184Met
XM_017018201.2:c.3553G>A	XP_016873690.1:p.Val1185Met
XM_017018202.1:c.2050G>A	XP_016873691.1:p.Val684Met
XM_017018204.1:c.1441G>A	XP_016873693.1:p.Val481Met
XM_024448668.1:c.1852G>A	XP_024304436.1:p.Val618Met
XR_001747945.2:n.3625G>A
XR_001747946.2:n.3556G>A
XR_002957189.1:n.3705G>A
NM_000352.6:c.3484G>A MANE Select	NP_000343.2:p.Val1162Met
NM_001287174.2:c.3487G>A	NP_001274103.1:p.Val1163Met
NM_001351295.2:c.3550G>A	NP_001338224.1:p.Val1184Met
NM_001351296.2:c.3484G>A	NP_001338225.1:p.Val1162Met
NM_001351297.2:c.3481G>A	NP_001338226.1:p.Val1161Met
NR_147094.2:n.3633G>A
NM_001287174.3:c.3487G>A	NP_001274103.1:p.Val1163Met