Canonical Allele Identifier: CA379815690

Gene: ABCC8

Linked Data

• dbSNP Id: rs1294138949
• gnomAD v3: 11-17428594-G-T
• gnomAD v4: 11-17428594-G-T
• MyVariant Identifiers: chr11:g.17450141G>T (hg19) ; chr11:g.17428594G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17428594G>T , CM000673.2:g.17428594G>T	GRCh38
NC_000011.9:g.17450141G>T , CM000673.1:g.17450141G>T	GRCh37
NC_000011.8:g.17406717G>T	NCBI36
NG_008867.1:g.53309C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.1563C>A
ENST00000642611.2:n.1960C>A
ENST00000682051.1:n.1907C>A
ENST00000682110.1:n.1960C>A
ENST00000682140.1:c.1891C>A	ENSP00000507829.1:p.Gln631Lys
ENST00000682185.1:n.3199C>A
ENST00000682204.1:c.*32C>A	ENSP00000507094.1:n.*32C>A
ENST00000682215.1:n.1960C>A
ENST00000682288.1:c.*322C>A	ENSP00000507506.1:n.*322C>A
ENST00000682442.1:n.2081C>A
ENST00000682528.1:n.1960C>A
ENST00000682673.1:n.1907C>A
ENST00000682805.1:n.1960C>A
ENST00000682965.1:c.1891C>A	ENSP00000508229.1:p.Gln631Lys
ENST00000683093.1:n.2062C>A
ENST00000683136.1:c.1891C>A	ENSP00000507768.1:p.Gln631Lys
ENST00000683153.1:n.1960C>A
ENST00000683253.1:n.2976C>A
ENST00000683365.1:n.2062C>A
ENST00000683377.1:n.1960C>A
ENST00000683456.1:c.1891C>A	ENSP00000508318.1:p.Gln631Lys
ENST00000683522.1:n.1960C>A
ENST00000683562.1:c.*63C>A	ENSP00000508265.1:n.*63C>A
ENST00000683693.1:n.1960C>A
ENST00000683725.1:c.1894C>A	ENSP00000507496.1:p.Gln632Lys
ENST00000684010.1:n.1960C>A
ENST00000684157.1:n.1960C>A
ENST00000684253.1:n.1866C>A
ENST00000684288.1:c.*63C>A	ENSP00000507143.1:n.*63C>A
ENST00000684313.1:n.1724-11632C>A
ENST00000684332.1:n.2033C>A
ENST00000684371.1:n.1907C>A
ENST00000684404.1:n.1960C>A
ENST00000684442.1:n.1960C>A
ENST00000684555.1:c.*103C>A	ENSP00000507705.1:n.*103C>A
ENST00000684571.1:c.1735C>A	ENSP00000506935.1:p.Gln579Lys
ENST00000684593.1:c.*1599C>A	ENSP00000507005.1:n.*1599C>A
ENST00000684711.1:c.*290C>A	ENSP00000506841.1:n.*290C>A
ENST00000302539.9:c.1894C>A	ENSP00000303960.4:p.Gln632Lys
ENST00000389817.8:c.1894C>A MANE Select	ENSP00000374467.4:p.Gln632Lys
ENST00000532728.6:c.1475C>A
ENST00000642271.1:c.1891C>A	ENSP00000493749.1:p.Gln631Lys
ENST00000642611.1:n.1845C>A
ENST00000642902.1:c.1729C>A
ENST00000643260.1:c.1891C>A	ENSP00000494450.1:p.Gln631Lys
ENST00000643562.1:c.1894C>A	ENSP00000496124.1:p.Gln632Lys
ENST00000644447.1:c.247C>A	ENSP00000496282.1:p.Gln83Lys
ENST00000644472.1:c.*255C>A	ENSP00000495378.1:n.*255C>A
ENST00000644484.1:c.*103C>A	ENSP00000493558.1:n.*103C>A
ENST00000644542.1:c.*1596C>A	ENSP00000495532.1:n.*1596C>A
ENST00000644649.1:c.1064C>A
ENST00000644675.1:c.*63C>A	ENSP00000494567.1:n.*63C>A
ENST00000644757.1:c.*196C>A	ENSP00000495085.1:n.*196C>A
ENST00000644772.1:c.1894C>A	ENSP00000494321.1:p.Gln632Lys
ENST00000645076.1:c.1146C>A
ENST00000645744.1:c.*255C>A	ENSP00000494564.1:n.*255C>A
ENST00000645760.1:c.2169C>A
ENST00000645884.1:c.1891C>A	ENSP00000495516.1:p.Gln631Lys
ENST00000646003.1:c.*32C>A	ENSP00000495259.1:n.*32C>A
ENST00000646207.1:c.*255C>A	ENSP00000495025.1:n.*255C>A
ENST00000646276.1:c.*164C>A	ENSP00000496070.1:n.*164C>A
ENST00000646592.1:c.958C>A
ENST00000646902.1:c.1891C>A	ENSP00000494101.1:p.Gln631Lys
ENST00000646993.1:c.*290C>A	ENSP00000493720.1:n.*290C>A
ENST00000647013.1:c.1897C>A	ENSP00000496741.1:n.1897C>A
ENST00000647015.1:c.1672-189C>A	ENSP00000495389.1:n.1672-189C>A
ENST00000647086.1:c.*1621C>A	ENSP00000493677.1:n.*1621C>A
ENST00000647158.1:c.*32C>A	ENSP00000495744.1:n.*32C>A
ENST00000302539.8:c.1894C>A	ENSP00000303960.4:p.Gln632Lys
ENST00000389817.7:c.1894C>A	ENSP00000374467.3:p.Gln632Lys
ENST00000527905.5:c.1864C>A	ENSP00000431653.1:p.Gln622Lys
NM_000352.4:c.1894C>A	NP_000343.2:p.Gln632Lys
NM_001287174.1:c.1894C>A	NP_001274103.1:p.Gln632Lys
XM_011520331.1:c.1891C>A	XP_011518633.1:p.Gln631Lys
XM_011520332.1:c.1894C>A	XP_011518634.1:p.Gln632Lys
XM_011520333.1:c.391C>A	XP_011518635.1:p.Gln131Lys
XM_011520334.1:c.1894C>A	XP_011518636.1:p.Gln632Lys
XR_930890.1:n.1957C>A
XR_930891.1:n.1957C>A
XR_930892.1:n.1957C>A
XR_930893.1:n.1957C>A
NM_001351295.1:c.1894C>A	NP_001338224.1:p.Gln632Lys
NM_001351296.1:c.1891C>A	NP_001338225.1:p.Gln631Lys
NM_001351297.1:c.1891C>A	NP_001338226.1:p.Gln631Lys
NR_147094.1:n.1960C>A
XM_017018197.2:c.1894C>A	XP_016873686.1:p.Gln632Lys
XM_017018199.1:c.1891C>A	XP_016873688.1:p.Gln631Lys
XM_017018201.2:c.1894C>A	XP_016873690.1:p.Gln632Lys
XM_017018202.1:c.391C>A	XP_016873691.1:p.Gln131Lys
XM_017018204.1:c.-150C>A	XP_016873693.1:n.-150C>A
XM_024448668.1:c.259C>A	XP_024304436.1:p.Gln87Lys
XR_001747945.2:n.1966C>A
XR_001747946.2:n.1966C>A
XR_002957189.1:n.1966C>A
NM_000352.6:c.1894C>A MANE Select	NP_000343.2:p.Gln632Lys
NM_001287174.2:c.1894C>A	NP_001274103.1:p.Gln632Lys
NM_001351295.2:c.1894C>A	NP_001338224.1:p.Gln632Lys
NM_001351296.2:c.1891C>A	NP_001338225.1:p.Gln631Lys
NM_001351297.2:c.1891C>A	NP_001338226.1:p.Gln631Lys
NR_147094.2:n.1960C>A
NM_001287174.3:c.1894C>A	NP_001274103.1:p.Gln632Lys