Canonical Allele Identifier: CA379802977

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17406776-C-A
• MyVariant Identifiers: chr11:g.17428323C>A (hg19) ; chr11:g.17406776C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406776C>A , CM000673.2:g.17406776C>A	GRCh38
NC_000011.9:g.17428323C>A , CM000673.1:g.17428323C>A	GRCh37
NC_000011.8:g.17384899C>A	NCBI36
NG_008867.1:g.75127G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2744G>T
ENST00000529967.6:n.1514G>T
ENST00000532220.2:n.907G>T
ENST00000642611.2:n.3244G>T
ENST00000645004.2:n.674G>T
ENST00000682051.1:n.3191G>T
ENST00000682110.1:n.3244G>T
ENST00000682140.1:c.3172G>T	ENSP00000507829.1:p.Asp1058Tyr
ENST00000682185.1:n.4480G>T
ENST00000682204.1:c.*1313G>T	ENSP00000507094.1:n.*1313G>T
ENST00000682215.1:n.3241G>T
ENST00000682288.1:c.*1606G>T	ENSP00000507506.1:n.*1606G>T
ENST00000682442.1:n.3464G>T
ENST00000682528.1:n.3321G>T
ENST00000682673.1:n.3188G>T
ENST00000682805.1:n.3241G>T
ENST00000682965.1:c.3172G>T	ENSP00000508229.1:p.Asp1058Tyr
ENST00000683093.1:n.3343G>T
ENST00000683136.1:c.3172G>T	ENSP00000507768.1:p.Asp1058Tyr
ENST00000683153.1:n.3400G>T
ENST00000683365.1:n.3346G>T
ENST00000683377.1:n.3244G>T
ENST00000683456.1:c.*312G>T	ENSP00000508318.1:n.*312G>T
ENST00000683522.1:n.3244G>T
ENST00000683562.1:c.*1344G>T	ENSP00000508265.1:n.*1344G>T
ENST00000683693.1:n.3321G>T
ENST00000683725.1:c.3175G>T	ENSP00000507496.1:p.Asp1059Tyr
ENST00000684010.1:n.3239G>T
ENST00000684157.1:n.3244G>T
ENST00000684253.1:n.3147G>T
ENST00000684288.1:c.*1347G>T	ENSP00000507143.1:n.*1347G>T
ENST00000684313.1:n.2676G>T
ENST00000684332.1:n.3317G>T
ENST00000684371.1:n.3350G>T
ENST00000684404.1:n.3287G>T
ENST00000684442.1:n.3244G>T
ENST00000684555.1:c.*1387G>T	ENSP00000507705.1:n.*1387G>T
ENST00000684571.1:c.3016G>T	ENSP00000506935.1:p.Asp1006Tyr
ENST00000684593.1:c.*2880G>T	ENSP00000507005.1:n.*2880G>T
ENST00000684711.1:c.*1571G>T	ENSP00000506841.1:n.*1571G>T
ENST00000302539.9:c.3178G>T	ENSP00000303960.4:p.Asp1060Tyr
ENST00000389817.8:c.3175G>T MANE Select	ENSP00000374467.4:p.Asp1059Tyr
ENST00000642271.1:c.3172G>T	ENSP00000493749.1:p.Asp1058Tyr
ENST00000642579.1:c.1259G>T
ENST00000642611.1:n.3129G>T
ENST00000642902.1:c.2957G>T
ENST00000643260.1:c.3175G>T	ENSP00000494450.1:p.Asp1059Tyr
ENST00000643562.1:c.*1151G>T	ENSP00000496124.1:n.*1151G>T
ENST00000643925.1:c.1299G>T
ENST00000644447.1:c.1531G>T	ENSP00000496282.1:p.Asp511Tyr
ENST00000644484.1:c.*1430G>T	ENSP00000493558.1:n.*1430G>T
ENST00000644542.1:c.*2979G>T	ENSP00000495532.1:n.*2979G>T
ENST00000644675.1:c.*1347G>T	ENSP00000494567.1:n.*1347G>T
ENST00000644757.1:c.*1460G>T	ENSP00000495085.1:n.*1460G>T
ENST00000644772.1:c.3241G>T	ENSP00000494321.1:p.Asp1081Tyr
ENST00000645004.1:n.314G>T
ENST00000645076.1:c.2374G>T
ENST00000645417.1:c.341G>T
ENST00000645744.1:c.*1439G>T	ENSP00000494564.1:n.*1439G>T
ENST00000645760.1:c.3450G>T
ENST00000645884.1:c.*312G>T	ENSP00000495516.1:n.*312G>T
ENST00000646003.1:c.*1131G>T	ENSP00000495259.1:n.*1131G>T
ENST00000646207.1:c.*1642G>T	ENSP00000495025.1:n.*1642G>T
ENST00000646276.1:c.*1448G>T	ENSP00000496070.1:n.*1448G>T
ENST00000646592.1:c.2481G>T
ENST00000646902.1:c.3172G>T	ENSP00000494101.1:p.Asp1058Tyr
ENST00000646993.1:c.*1571G>T	ENSP00000493720.1:n.*1571G>T
ENST00000647013.1:c.3181G>T	ENSP00000496741.1:n.3181G>T
ENST00000647015.1:c.2926G>T	ENSP00000495389.1:p.Asp976Tyr
ENST00000647086.1:c.*2905G>T	ENSP00000493677.1:n.*2905G>T
ENST00000647158.1:c.*1316G>T	ENSP00000495744.1:n.*1316G>T
ENST00000302539.8:c.3178G>T	ENSP00000303960.4:p.Asp1060Tyr
ENST00000389817.7:c.3175G>T	ENSP00000374467.3:p.Asp1059Tyr
ENST00000524561.1:n.307G>T
ENST00000526921.5:n.859G>T
ENST00000527905.5:c.*51G>T	ENSP00000431653.1:n.*51G>T
NM_000352.4:c.3175G>T	NP_000343.2:p.Asp1059Tyr
NM_001287174.1:c.3178G>T	NP_001274103.1:p.Asp1060Tyr
XM_011520331.1:c.3175G>T	XP_011518633.1:p.Asp1059Tyr
XM_011520332.1:c.3178G>T	XP_011518634.1:p.Asp1060Tyr
XM_011520333.1:c.1675G>T	XP_011518635.1:p.Asp559Tyr
XR_930890.1:n.3241G>T
XR_930891.1:n.3241G>T
XR_930892.1:n.3141G>T
XR_930893.1:n.3138G>T
NM_001351295.1:c.3241G>T	NP_001338224.1:p.Asp1081Tyr
NM_001351296.1:c.3175G>T	NP_001338225.1:p.Asp1059Tyr
NM_001351297.1:c.3172G>T	NP_001338226.1:p.Asp1058Tyr
NR_147094.1:n.3324G>T
XM_017018197.2:c.3244G>T	XP_016873686.1:p.Asp1082Tyr
XM_017018199.1:c.3241G>T	XP_016873688.1:p.Asp1081Tyr
XM_017018201.2:c.3244G>T	XP_016873690.1:p.Asp1082Tyr
XM_017018202.1:c.1741G>T	XP_016873691.1:p.Asp581Tyr
XM_017018204.1:c.1132G>T	XP_016873693.1:p.Asp378Tyr
XM_024448668.1:c.1543G>T	XP_024304436.1:p.Asp515Tyr
XR_001747945.2:n.3316G>T
XR_001747946.2:n.3247G>T
XR_002957189.1:n.3396G>T
NM_000352.6:c.3175G>T MANE Select	NP_000343.2:p.Asp1059Tyr
NM_001287174.2:c.3178G>T	NP_001274103.1:p.Asp1060Tyr
NM_001351295.2:c.3241G>T	NP_001338224.1:p.Asp1081Tyr
NM_001351296.2:c.3175G>T	NP_001338225.1:p.Asp1059Tyr
NM_001351297.2:c.3172G>T	NP_001338226.1:p.Asp1058Tyr
NR_147094.2:n.3324G>T
NM_001287174.3:c.3178G>T	NP_001274103.1:p.Asp1060Tyr