Canonical Allele Identifier: CA379797957

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17426122A>C (hg19) ; chr11:g.17404575A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17404575A>C , CM000673.2:g.17404575A>C	GRCh38
NC_000011.9:g.17426122A>C , CM000673.1:g.17426122A>C	GRCh37
NC_000011.8:g.17382698A>C	NCBI36
NG_008867.1:g.77328T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3063T>G
ENST00000528374.2:c.73T>G
ENST00000529967.6:n.1833T>G
ENST00000532220.2:n.1226T>G
ENST00000642611.2:n.3563T>G
ENST00000645004.2:n.993T>G
ENST00000682051.1:n.3510T>G
ENST00000682110.1:n.3563T>G
ENST00000682140.1:c.3491T>G	ENSP00000507829.1:p.Val1164Gly
ENST00000682185.1:n.4799T>G
ENST00000682204.1:c.*1632T>G	ENSP00000507094.1:n.*1632T>G
ENST00000682215.1:n.3560T>G
ENST00000682288.1:c.*1925T>G	ENSP00000507506.1:n.*1925T>G
ENST00000682442.1:n.3783T>G
ENST00000682528.1:n.3640T>G
ENST00000682673.1:n.3507T>G
ENST00000682805.1:n.3560T>G
ENST00000682965.1:c.3396+919T>G	ENSP00000508229.1:n.3396+919T>G
ENST00000683093.1:n.3662T>G
ENST00000683136.1:c.3491T>G	ENSP00000507768.1:p.Val1164Gly
ENST00000683153.1:n.3719T>G
ENST00000683365.1:n.3665T>G
ENST00000683377.1:n.3563T>G
ENST00000683456.1:c.*631T>G	ENSP00000508318.1:n.*631T>G
ENST00000683522.1:n.3563T>G
ENST00000683562.1:c.*1663T>G	ENSP00000508265.1:n.*1663T>G
ENST00000683693.1:n.3640T>G
ENST00000683725.1:c.3494T>G	ENSP00000507496.1:p.Val1165Gly
ENST00000684010.1:n.3558T>G
ENST00000684157.1:n.3563T>G
ENST00000684253.1:n.3466T>G
ENST00000684288.1:c.*1666T>G	ENSP00000507143.1:n.*1666T>G
ENST00000684313.1:n.2995T>G
ENST00000684332.1:n.3636T>G
ENST00000684371.1:n.3669T>G
ENST00000684404.1:n.3606T>G
ENST00000684442.1:n.3563T>G
ENST00000684555.1:c.*1706T>G	ENSP00000507705.1:n.*1706T>G
ENST00000684571.1:c.3335T>G	ENSP00000506935.1:p.Val1112Gly
ENST00000684593.1:c.*3199T>G	ENSP00000507005.1:n.*3199T>G
ENST00000684711.1:c.*1890T>G	ENSP00000506841.1:n.*1890T>G
ENST00000302539.9:c.3497T>G	ENSP00000303960.4:p.Val1166Gly
ENST00000389817.8:c.3494T>G MANE Select	ENSP00000374467.4:p.Val1165Gly
ENST00000642271.1:c.3491T>G	ENSP00000493749.1:p.Val1164Gly
ENST00000642579.1:c.1578T>G
ENST00000642611.1:n.3448T>G
ENST00000642902.1:c.3276T>G
ENST00000643260.1:c.3494T>G	ENSP00000494450.1:p.Val1165Gly
ENST00000643562.1:c.*1470T>G	ENSP00000496124.1:n.*1470T>G
ENST00000643925.1:c.1618T>G
ENST00000644447.1:c.1850T>G	ENSP00000496282.1:p.Val617Gly
ENST00000644484.1:c.*1749T>G	ENSP00000493558.1:n.*1749T>G
ENST00000644675.1:c.*1666T>G	ENSP00000494567.1:n.*1666T>G
ENST00000644757.1:c.*1779T>G	ENSP00000495085.1:n.*1779T>G
ENST00000644772.1:c.3560T>G	ENSP00000494321.1:p.Val1187Gly
ENST00000645004.1:n.633T>G
ENST00000645076.1:c.2693T>G
ENST00000645417.1:c.660T>G
ENST00000645744.1:c.*1758T>G	ENSP00000494564.1:n.*1758T>G
ENST00000645760.1:c.3769T>G
ENST00000645884.1:c.*631T>G	ENSP00000495516.1:n.*631T>G
ENST00000646003.1:c.*1450T>G	ENSP00000495259.1:n.*1450T>G
ENST00000646207.1:c.*1961T>G	ENSP00000495025.1:n.*1961T>G
ENST00000646276.1:c.*1767T>G	ENSP00000496070.1:n.*1767T>G
ENST00000646592.1:c.2800T>G
ENST00000646902.1:c.3491T>G	ENSP00000494101.1:p.Val1164Gly
ENST00000646993.1:c.*1890T>G	ENSP00000493720.1:n.*1890T>G
ENST00000647013.1:c.3500T>G	ENSP00000496741.1:n.3500T>G
ENST00000647015.1:c.3245T>G	ENSP00000495389.1:p.Val1082Gly
ENST00000647086.1:c.*3224T>G	ENSP00000493677.1:n.*3224T>G
ENST00000647158.1:c.*1635T>G	ENSP00000495744.1:n.*1635T>G
ENST00000302539.8:c.3497T>G	ENSP00000303960.4:p.Val1166Gly
ENST00000389817.7:c.3494T>G	ENSP00000374467.3:p.Val1165Gly
ENST00000524561.1:n.626T>G
ENST00000527905.5:c.*370T>G	ENSP00000431653.1:n.*370T>G
NM_000352.4:c.3494T>G	NP_000343.2:p.Val1165Gly
NM_001287174.1:c.3497T>G	NP_001274103.1:p.Val1166Gly
XM_011520331.1:c.3494T>G	XP_011518633.1:p.Val1165Gly
XM_011520332.1:c.3497T>G	XP_011518634.1:p.Val1166Gly
XM_011520333.1:c.1994T>G	XP_011518635.1:p.Val665Gly
XR_930890.1:n.3560T>G
XR_930892.1:n.3460T>G
XR_930893.1:n.3457T>G
NM_001351295.1:c.3560T>G	NP_001338224.1:p.Val1187Gly
NM_001351296.1:c.3494T>G	NP_001338225.1:p.Val1165Gly
NM_001351297.1:c.3491T>G	NP_001338226.1:p.Val1164Gly
NR_147094.1:n.3643T>G
XM_017018197.2:c.3563T>G	XP_016873686.1:p.Val1188Gly
XM_017018199.1:c.3560T>G	XP_016873688.1:p.Val1187Gly
XM_017018201.2:c.3563T>G	XP_016873690.1:p.Val1188Gly
XM_017018202.1:c.2060T>G	XP_016873691.1:p.Val687Gly
XM_017018204.1:c.1451T>G	XP_016873693.1:p.Val484Gly
XM_024448668.1:c.1862T>G	XP_024304436.1:p.Val621Gly
XR_001747945.2:n.3635T>G
XR_001747946.2:n.3566T>G
XR_002957189.1:n.3715T>G
NM_000352.6:c.3494T>G MANE Select	NP_000343.2:p.Val1165Gly
NM_001287174.2:c.3497T>G	NP_001274103.1:p.Val1166Gly
NM_001351295.2:c.3560T>G	NP_001338224.1:p.Val1187Gly
NM_001351296.2:c.3494T>G	NP_001338225.1:p.Val1165Gly
NM_001351297.2:c.3491T>G	NP_001338226.1:p.Val1164Gly
NR_147094.2:n.3643T>G
NM_001287174.3:c.3497T>G	NP_001274103.1:p.Val1166Gly