Canonical Allele Identifier: CA379815076

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17449845G>C (hg19) ; chr11:g.17428298G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17428298G>C , CM000673.2:g.17428298G>C	GRCh38
NC_000011.9:g.17449845G>C , CM000673.1:g.17449845G>C	GRCh37
NC_000011.8:g.17406421G>C	NCBI36
NG_008867.1:g.53605C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.1700C>G
ENST00000529967.6:n.290C>G
ENST00000642611.2:n.2097C>G
ENST00000682051.1:n.2044C>G
ENST00000682110.1:n.2097C>G
ENST00000682140.1:c.2028C>G	ENSP00000507829.1:p.Cys676Trp
ENST00000682185.1:n.3336C>G
ENST00000682204.1:c.*169C>G	ENSP00000507094.1:n.*169C>G
ENST00000682215.1:n.2097C>G
ENST00000682288.1:c.*459C>G	ENSP00000507506.1:n.*459C>G
ENST00000682442.1:n.2218C>G
ENST00000682528.1:n.2097C>G
ENST00000682673.1:n.2044C>G
ENST00000682805.1:n.2097C>G
ENST00000682965.1:c.2028C>G	ENSP00000508229.1:p.Cys676Trp
ENST00000683093.1:n.2199C>G
ENST00000683136.1:c.2028C>G	ENSP00000507768.1:p.Cys676Trp
ENST00000683153.1:n.2256C>G
ENST00000683253.1:n.3113C>G
ENST00000683365.1:n.2199C>G
ENST00000683377.1:n.2097C>G
ENST00000683456.1:c.2028C>G	ENSP00000508318.1:p.Cys676Trp
ENST00000683522.1:n.2097C>G
ENST00000683562.1:c.*200C>G	ENSP00000508265.1:n.*200C>G
ENST00000683693.1:n.2097C>G
ENST00000683725.1:c.2031C>G	ENSP00000507496.1:p.Cys677Trp
ENST00000684010.1:n.2097C>G
ENST00000684157.1:n.2097C>G
ENST00000684253.1:n.2003C>G
ENST00000684288.1:c.*200C>G	ENSP00000507143.1:n.*200C>G
ENST00000684313.1:n.1724-11336C>G
ENST00000684332.1:n.2170C>G
ENST00000684371.1:n.2203C>G
ENST00000684404.1:n.2097C>G
ENST00000684442.1:n.2097C>G
ENST00000684555.1:c.*240C>G	ENSP00000507705.1:n.*240C>G
ENST00000684571.1:c.1872C>G	ENSP00000506935.1:p.Cys624Trp
ENST00000684593.1:c.*1736C>G	ENSP00000507005.1:n.*1736C>G
ENST00000684711.1:c.*427C>G	ENSP00000506841.1:n.*427C>G
ENST00000302539.9:c.2031C>G	ENSP00000303960.4:p.Cys677Trp
ENST00000389817.8:c.2031C>G MANE Select	ENSP00000374467.4:p.Cys677Trp
ENST00000532728.6:c.1612C>G
ENST00000642271.1:c.2028C>G	ENSP00000493749.1:p.Cys676Trp
ENST00000642579.1:c.112C>G
ENST00000642611.1:n.1982C>G
ENST00000642902.1:c.1866C>G
ENST00000643260.1:c.2028C>G	ENSP00000494450.1:p.Cys676Trp
ENST00000643562.1:c.*7C>G	ENSP00000496124.1:n.*7C>G
ENST00000644447.1:c.384C>G	ENSP00000496282.1:p.Cys128Trp
ENST00000644472.1:c.*392C>G	ENSP00000495378.1:n.*392C>G
ENST00000644484.1:c.*240C>G	ENSP00000493558.1:n.*240C>G
ENST00000644542.1:c.*1733C>G	ENSP00000495532.1:n.*1733C>G
ENST00000644649.1:c.1201C>G
ENST00000644675.1:c.*200C>G	ENSP00000494567.1:n.*200C>G
ENST00000644757.1:c.*333C>G	ENSP00000495085.1:n.*333C>G
ENST00000644772.1:c.2097C>G	ENSP00000494321.1:p.Cys699Trp
ENST00000645076.1:c.1283C>G
ENST00000645744.1:c.*392C>G	ENSP00000494564.1:n.*392C>G
ENST00000645760.1:c.2306C>G
ENST00000645884.1:c.2028C>G	ENSP00000495516.1:p.Cys676Trp
ENST00000646003.1:c.*169C>G	ENSP00000495259.1:n.*169C>G
ENST00000646207.1:c.*392C>G	ENSP00000495025.1:n.*392C>G
ENST00000646276.1:c.*301C>G	ENSP00000496070.1:n.*301C>G
ENST00000646592.1:c.1254C>G
ENST00000646902.1:c.2028C>G	ENSP00000494101.1:p.Cys676Trp
ENST00000646993.1:c.*427C>G	ENSP00000493720.1:n.*427C>G
ENST00000647013.1:c.2034C>G	ENSP00000496741.1:n.2034C>G
ENST00000647015.1:c.1779C>G	ENSP00000495389.1:p.Cys593Trp
ENST00000647086.1:c.*1758C>G	ENSP00000493677.1:n.*1758C>G
ENST00000647158.1:c.*169C>G	ENSP00000495744.1:n.*169C>G
ENST00000302539.8:c.2031C>G	ENSP00000303960.4:p.Cys677Trp
ENST00000389817.7:c.2031C>G	ENSP00000374467.3:p.Cys677Trp
ENST00000527905.5:c.2001C>G	ENSP00000431653.1:p.Cys667Trp
NM_000352.4:c.2031C>G	NP_000343.2:p.Cys677Trp
NM_001287174.1:c.2031C>G	NP_001274103.1:p.Cys677Trp
XM_011520331.1:c.2028C>G	XP_011518633.1:p.Cys676Trp
XM_011520332.1:c.2031C>G	XP_011518634.1:p.Cys677Trp
XM_011520333.1:c.528C>G	XP_011518635.1:p.Cys176Trp
XM_011520334.1:c.2031C>G	XP_011518636.1:p.Cys677Trp
XR_930890.1:n.2094C>G
XR_930891.1:n.2094C>G
XR_930892.1:n.2094C>G
XR_930893.1:n.2094C>G
NM_001351295.1:c.2097C>G	NP_001338224.1:p.Cys699Trp
NM_001351296.1:c.2028C>G	NP_001338225.1:p.Cys676Trp
NM_001351297.1:c.2028C>G	NP_001338226.1:p.Cys676Trp
NR_147094.1:n.2097C>G
XM_017018197.2:c.2097C>G	XP_016873686.1:p.Cys699Trp
XM_017018199.1:c.2094C>G	XP_016873688.1:p.Cys698Trp
XM_017018201.2:c.2097C>G	XP_016873690.1:p.Cys699Trp
XM_017018202.1:c.594C>G	XP_016873691.1:p.Cys198Trp
XM_017018204.1:c.-13C>G	XP_016873693.1:n.-13C>G
XM_024448668.1:c.396C>G	XP_024304436.1:p.Cys132Trp
XR_001747945.2:n.2169C>G
XR_001747946.2:n.2103C>G
XR_002957189.1:n.2169C>G
NM_000352.6:c.2031C>G MANE Select	NP_000343.2:p.Cys677Trp
NM_001287174.2:c.2031C>G	NP_001274103.1:p.Cys677Trp
NM_001351295.2:c.2097C>G	NP_001338224.1:p.Cys699Trp
NM_001351296.2:c.2028C>G	NP_001338225.1:p.Cys676Trp
NM_001351297.2:c.2028C>G	NP_001338226.1:p.Cys676Trp
NR_147094.2:n.2097C>G
NM_001287174.3:c.2031C>G	NP_001274103.1:p.Cys677Trp