Canonical Allele Identifier: CA473299700

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17426166G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17404619G>C , CM000673.2:g.17404619G>C	GRCh38
NC_000011.9:g.17426166G>C , CM000673.1:g.17426166G>C	GRCh37
NC_000011.8:g.17382742G>C	NCBI36
NG_008867.1:g.77284C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3019C>G
ENST00000528374.2:c.29C>G
ENST00000529967.6:n.1789C>G
ENST00000532220.2:n.1182C>G
ENST00000642611.2:n.3519C>G
ENST00000645004.2:n.949C>G
ENST00000682051.1:n.3466C>G
ENST00000682110.1:n.3519C>G
ENST00000682140.1:c.3447C>G	ENSP00000507829.1:p.Val1149=
ENST00000682185.1:n.4755C>G
ENST00000682204.1:c.*1588C>G	ENSP00000507094.1:n.*1588C>G
ENST00000682215.1:n.3516C>G
ENST00000682288.1:c.*1881C>G	ENSP00000507506.1:n.*1881C>G
ENST00000682442.1:n.3739C>G
ENST00000682528.1:n.3596C>G
ENST00000682673.1:n.3463C>G
ENST00000682805.1:n.3516C>G
ENST00000682965.1:c.3396+875C>G	ENSP00000508229.1:n.3396+875C>G
ENST00000683093.1:n.3618C>G
ENST00000683136.1:c.3447C>G	ENSP00000507768.1:p.Val1149=
ENST00000683153.1:n.3675C>G
ENST00000683365.1:n.3621C>G
ENST00000683377.1:n.3519C>G
ENST00000683456.1:c.*587C>G	ENSP00000508318.1:n.*587C>G
ENST00000683522.1:n.3519C>G
ENST00000683562.1:c.*1619C>G	ENSP00000508265.1:n.*1619C>G
ENST00000683693.1:n.3596C>G
ENST00000683725.1:c.3450C>G	ENSP00000507496.1:p.Val1150=
ENST00000684010.1:n.3514C>G
ENST00000684157.1:n.3519C>G
ENST00000684253.1:n.3422C>G
ENST00000684288.1:c.*1622C>G	ENSP00000507143.1:n.*1622C>G
ENST00000684313.1:n.2951C>G
ENST00000684332.1:n.3592C>G
ENST00000684371.1:n.3625C>G
ENST00000684404.1:n.3562C>G
ENST00000684442.1:n.3519C>G
ENST00000684555.1:c.*1662C>G	ENSP00000507705.1:n.*1662C>G
ENST00000684571.1:c.3291C>G	ENSP00000506935.1:p.Val1097=
ENST00000684593.1:c.*3155C>G	ENSP00000507005.1:n.*3155C>G
ENST00000684711.1:c.*1846C>G	ENSP00000506841.1:n.*1846C>G
ENST00000302539.9:c.3453C>G	ENSP00000303960.4:p.Val1151=
ENST00000389817.8:c.3450C>G MANE Select	ENSP00000374467.4:p.Val1150=
ENST00000642271.1:c.3447C>G	ENSP00000493749.1:p.Val1149=
ENST00000642579.1:c.1534C>G
ENST00000642611.1:n.3404C>G
ENST00000642902.1:c.3232C>G
ENST00000643260.1:c.3450C>G	ENSP00000494450.1:p.Val1150=
ENST00000643562.1:c.*1426C>G	ENSP00000496124.1:n.*1426C>G
ENST00000643925.1:c.1574C>G
ENST00000644447.1:c.1806C>G	ENSP00000496282.1:p.Val602=
ENST00000644484.1:c.*1705C>G	ENSP00000493558.1:n.*1705C>G
ENST00000644675.1:c.*1622C>G	ENSP00000494567.1:n.*1622C>G
ENST00000644757.1:c.*1735C>G	ENSP00000495085.1:n.*1735C>G
ENST00000644772.1:c.3516C>G	ENSP00000494321.1:p.Val1172=
ENST00000645004.1:n.589C>G
ENST00000645076.1:c.2649C>G
ENST00000645417.1:c.616C>G
ENST00000645744.1:c.*1714C>G	ENSP00000494564.1:n.*1714C>G
ENST00000645760.1:c.3725C>G
ENST00000645884.1:c.*587C>G	ENSP00000495516.1:n.*587C>G
ENST00000646003.1:c.*1406C>G	ENSP00000495259.1:n.*1406C>G
ENST00000646207.1:c.*1917C>G	ENSP00000495025.1:n.*1917C>G
ENST00000646276.1:c.*1723C>G	ENSP00000496070.1:n.*1723C>G
ENST00000646592.1:c.2756C>G
ENST00000646902.1:c.3447C>G	ENSP00000494101.1:p.Val1149=
ENST00000646993.1:c.*1846C>G	ENSP00000493720.1:n.*1846C>G
ENST00000647013.1:c.3456C>G	ENSP00000496741.1:n.3456C>G
ENST00000647015.1:c.3201C>G	ENSP00000495389.1:p.Val1067=
ENST00000647086.1:c.*3180C>G	ENSP00000493677.1:n.*3180C>G
ENST00000647158.1:c.*1591C>G	ENSP00000495744.1:n.*1591C>G
ENST00000302539.8:c.3453C>G	ENSP00000303960.4:p.Val1151=
ENST00000389817.7:c.3450C>G	ENSP00000374467.3:p.Val1150=
ENST00000524561.1:n.582C>G
ENST00000527905.5:c.*326C>G	ENSP00000431653.1:n.*326C>G
NM_000352.4:c.3450C>G	NP_000343.2:p.Val1150=
NM_001287174.1:c.3453C>G	NP_001274103.1:p.Val1151=
XM_011520331.1:c.3450C>G	XP_011518633.1:p.Val1150=
XM_011520332.1:c.3453C>G	XP_011518634.1:p.Val1151=
XM_011520333.1:c.1950C>G	XP_011518635.1:p.Val650=
XR_930890.1:n.3516C>G
XR_930892.1:n.3416C>G
XR_930893.1:n.3413C>G
NM_001351295.1:c.3516C>G	NP_001338224.1:p.Val1172=
NM_001351296.1:c.3450C>G	NP_001338225.1:p.Val1150=
NM_001351297.1:c.3447C>G	NP_001338226.1:p.Val1149=
NR_147094.1:n.3599C>G
XM_017018197.2:c.3519C>G	XP_016873686.1:p.Val1173=
XM_017018199.1:c.3516C>G	XP_016873688.1:p.Val1172=
XM_017018201.2:c.3519C>G	XP_016873690.1:p.Val1173=
XM_017018202.1:c.2016C>G	XP_016873691.1:p.Val672=
XM_017018204.1:c.1407C>G	XP_016873693.1:p.Val469=
XM_024448668.1:c.1818C>G	XP_024304436.1:p.Val606=
XR_001747945.2:n.3591C>G
XR_001747946.2:n.3522C>G
XR_002957189.1:n.3671C>G
NM_000352.6:c.3450C>G MANE Select	NP_000343.2:p.Val1150=
NM_001287174.2:c.3453C>G	NP_001274103.1:p.Val1151=
NM_001351295.2:c.3516C>G	NP_001338224.1:p.Val1172=
NM_001351296.2:c.3450C>G	NP_001338225.1:p.Val1150=
NM_001351297.2:c.3447C>G	NP_001338226.1:p.Val1149=
NR_147094.2:n.3599C>G
NM_001287174.3:c.3453C>G	NP_001274103.1:p.Val1151=