Canonical Allele Identifier: CA379798124

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17426141C>G (hg19) ; chr11:g.17404594C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17404594C>G , CM000673.2:g.17404594C>G	GRCh38
NC_000011.9:g.17426141C>G , CM000673.1:g.17426141C>G	GRCh37
NC_000011.8:g.17382717C>G	NCBI36
NG_008867.1:g.77309G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3044G>C
ENST00000528374.2:c.54G>C
ENST00000529967.6:n.1814G>C
ENST00000532220.2:n.1207G>C
ENST00000642611.2:n.3544G>C
ENST00000645004.2:n.974G>C
ENST00000682051.1:n.3491G>C
ENST00000682110.1:n.3544G>C
ENST00000682140.1:c.3472G>C	ENSP00000507829.1:p.Val1158Leu
ENST00000682185.1:n.4780G>C
ENST00000682204.1:c.*1613G>C	ENSP00000507094.1:n.*1613G>C
ENST00000682215.1:n.3541G>C
ENST00000682288.1:c.*1906G>C	ENSP00000507506.1:n.*1906G>C
ENST00000682442.1:n.3764G>C
ENST00000682528.1:n.3621G>C
ENST00000682673.1:n.3488G>C
ENST00000682805.1:n.3541G>C
ENST00000682965.1:c.3396+900G>C	ENSP00000508229.1:n.3396+900G>C
ENST00000683093.1:n.3643G>C
ENST00000683136.1:c.3472G>C	ENSP00000507768.1:p.Val1158Leu
ENST00000683153.1:n.3700G>C
ENST00000683365.1:n.3646G>C
ENST00000683377.1:n.3544G>C
ENST00000683456.1:c.*612G>C	ENSP00000508318.1:n.*612G>C
ENST00000683522.1:n.3544G>C
ENST00000683562.1:c.*1644G>C	ENSP00000508265.1:n.*1644G>C
ENST00000683693.1:n.3621G>C
ENST00000683725.1:c.3475G>C	ENSP00000507496.1:p.Val1159Leu
ENST00000684010.1:n.3539G>C
ENST00000684157.1:n.3544G>C
ENST00000684253.1:n.3447G>C
ENST00000684288.1:c.*1647G>C	ENSP00000507143.1:n.*1647G>C
ENST00000684313.1:n.2976G>C
ENST00000684332.1:n.3617G>C
ENST00000684371.1:n.3650G>C
ENST00000684404.1:n.3587G>C
ENST00000684442.1:n.3544G>C
ENST00000684555.1:c.*1687G>C	ENSP00000507705.1:n.*1687G>C
ENST00000684571.1:c.3316G>C	ENSP00000506935.1:p.Val1106Leu
ENST00000684593.1:c.*3180G>C	ENSP00000507005.1:n.*3180G>C
ENST00000684711.1:c.*1871G>C	ENSP00000506841.1:n.*1871G>C
ENST00000302539.9:c.3478G>C	ENSP00000303960.4:p.Val1160Leu
ENST00000389817.8:c.3475G>C MANE Select	ENSP00000374467.4:p.Val1159Leu
ENST00000642271.1:c.3472G>C	ENSP00000493749.1:p.Val1158Leu
ENST00000642579.1:c.1559G>C
ENST00000642611.1:n.3429G>C
ENST00000642902.1:c.3257G>C
ENST00000643260.1:c.3475G>C	ENSP00000494450.1:p.Val1159Leu
ENST00000643562.1:c.*1451G>C	ENSP00000496124.1:n.*1451G>C
ENST00000643925.1:c.1599G>C
ENST00000644447.1:c.1831G>C	ENSP00000496282.1:p.Val611Leu
ENST00000644484.1:c.*1730G>C	ENSP00000493558.1:n.*1730G>C
ENST00000644675.1:c.*1647G>C	ENSP00000494567.1:n.*1647G>C
ENST00000644757.1:c.*1760G>C	ENSP00000495085.1:n.*1760G>C
ENST00000644772.1:c.3541G>C	ENSP00000494321.1:p.Val1181Leu
ENST00000645004.1:n.614G>C
ENST00000645076.1:c.2674G>C
ENST00000645417.1:c.641G>C
ENST00000645744.1:c.*1739G>C	ENSP00000494564.1:n.*1739G>C
ENST00000645760.1:c.3750G>C
ENST00000645884.1:c.*612G>C	ENSP00000495516.1:n.*612G>C
ENST00000646003.1:c.*1431G>C	ENSP00000495259.1:n.*1431G>C
ENST00000646207.1:c.*1942G>C	ENSP00000495025.1:n.*1942G>C
ENST00000646276.1:c.*1748G>C	ENSP00000496070.1:n.*1748G>C
ENST00000646592.1:c.2781G>C
ENST00000646902.1:c.3472G>C	ENSP00000494101.1:p.Val1158Leu
ENST00000646993.1:c.*1871G>C	ENSP00000493720.1:n.*1871G>C
ENST00000647013.1:c.3481G>C	ENSP00000496741.1:n.3481G>C
ENST00000647015.1:c.3226G>C	ENSP00000495389.1:p.Val1076Leu
ENST00000647086.1:c.*3205G>C	ENSP00000493677.1:n.*3205G>C
ENST00000647158.1:c.*1616G>C	ENSP00000495744.1:n.*1616G>C
ENST00000302539.8:c.3478G>C	ENSP00000303960.4:p.Val1160Leu
ENST00000389817.7:c.3475G>C	ENSP00000374467.3:p.Val1159Leu
ENST00000524561.1:n.607G>C
ENST00000527905.5:c.*351G>C	ENSP00000431653.1:n.*351G>C
NM_000352.4:c.3475G>C	NP_000343.2:p.Val1159Leu
NM_001287174.1:c.3478G>C	NP_001274103.1:p.Val1160Leu
XM_011520331.1:c.3475G>C	XP_011518633.1:p.Val1159Leu
XM_011520332.1:c.3478G>C	XP_011518634.1:p.Val1160Leu
XM_011520333.1:c.1975G>C	XP_011518635.1:p.Val659Leu
XR_930890.1:n.3541G>C
XR_930892.1:n.3441G>C
XR_930893.1:n.3438G>C
NM_001351295.1:c.3541G>C	NP_001338224.1:p.Val1181Leu
NM_001351296.1:c.3475G>C	NP_001338225.1:p.Val1159Leu
NM_001351297.1:c.3472G>C	NP_001338226.1:p.Val1158Leu
NR_147094.1:n.3624G>C
XM_017018197.2:c.3544G>C	XP_016873686.1:p.Val1182Leu
XM_017018199.1:c.3541G>C	XP_016873688.1:p.Val1181Leu
XM_017018201.2:c.3544G>C	XP_016873690.1:p.Val1182Leu
XM_017018202.1:c.2041G>C	XP_016873691.1:p.Val681Leu
XM_017018204.1:c.1432G>C	XP_016873693.1:p.Val478Leu
XM_024448668.1:c.1843G>C	XP_024304436.1:p.Val615Leu
XR_001747945.2:n.3616G>C
XR_001747946.2:n.3547G>C
XR_002957189.1:n.3696G>C
NM_000352.6:c.3475G>C MANE Select	NP_000343.2:p.Val1159Leu
NM_001287174.2:c.3478G>C	NP_001274103.1:p.Val1160Leu
NM_001351295.2:c.3541G>C	NP_001338224.1:p.Val1181Leu
NM_001351296.2:c.3475G>C	NP_001338225.1:p.Val1159Leu
NM_001351297.2:c.3472G>C	NP_001338226.1:p.Val1158Leu
NR_147094.2:n.3624G>C
NM_001287174.3:c.3478G>C	NP_001274103.1:p.Val1160Leu