Canonical Allele Identifier: CA379815103

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17449851G>T (hg19) ; chr11:g.17428304G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17428304G>T , CM000673.2:g.17428304G>T	GRCh38
NC_000011.9:g.17449851G>T , CM000673.1:g.17449851G>T	GRCh37
NC_000011.8:g.17406427G>T	NCBI36
NG_008867.1:g.53599C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.1694C>A
ENST00000529967.6:n.284C>A
ENST00000642611.2:n.2091C>A
ENST00000682051.1:n.2038C>A
ENST00000682110.1:n.2091C>A
ENST00000682140.1:c.2022C>A	ENSP00000507829.1:p.Asp674Glu
ENST00000682185.1:n.3330C>A
ENST00000682204.1:c.*163C>A	ENSP00000507094.1:n.*163C>A
ENST00000682215.1:n.2091C>A
ENST00000682288.1:c.*453C>A	ENSP00000507506.1:n.*453C>A
ENST00000682442.1:n.2212C>A
ENST00000682528.1:n.2091C>A
ENST00000682673.1:n.2038C>A
ENST00000682805.1:n.2091C>A
ENST00000682965.1:c.2022C>A	ENSP00000508229.1:p.Asp674Glu
ENST00000683093.1:n.2193C>A
ENST00000683136.1:c.2022C>A	ENSP00000507768.1:p.Asp674Glu
ENST00000683153.1:n.2250C>A
ENST00000683253.1:n.3107C>A
ENST00000683365.1:n.2193C>A
ENST00000683377.1:n.2091C>A
ENST00000683456.1:c.2022C>A	ENSP00000508318.1:p.Asp674Glu
ENST00000683522.1:n.2091C>A
ENST00000683562.1:c.*194C>A	ENSP00000508265.1:n.*194C>A
ENST00000683693.1:n.2091C>A
ENST00000683725.1:c.2025C>A	ENSP00000507496.1:p.Asp675Glu
ENST00000684010.1:n.2091C>A
ENST00000684157.1:n.2091C>A
ENST00000684253.1:n.1997C>A
ENST00000684288.1:c.*194C>A	ENSP00000507143.1:n.*194C>A
ENST00000684313.1:n.1724-11342C>A
ENST00000684332.1:n.2164C>A
ENST00000684371.1:n.2197C>A
ENST00000684404.1:n.2091C>A
ENST00000684442.1:n.2091C>A
ENST00000684555.1:c.*234C>A	ENSP00000507705.1:n.*234C>A
ENST00000684571.1:c.1866C>A	ENSP00000506935.1:p.Asp622Glu
ENST00000684593.1:c.*1730C>A	ENSP00000507005.1:n.*1730C>A
ENST00000684711.1:c.*421C>A	ENSP00000506841.1:n.*421C>A
ENST00000302539.9:c.2025C>A	ENSP00000303960.4:p.Asp675Glu
ENST00000389817.8:c.2025C>A MANE Select	ENSP00000374467.4:p.Asp675Glu
ENST00000532728.6:c.1606C>A
ENST00000642271.1:c.2022C>A	ENSP00000493749.1:p.Asp674Glu
ENST00000642579.1:c.106C>A
ENST00000642611.1:n.1976C>A
ENST00000642902.1:c.1860C>A
ENST00000643260.1:c.2022C>A	ENSP00000494450.1:p.Asp674Glu
ENST00000643562.1:c.*1C>A	ENSP00000496124.1:n.*1C>A
ENST00000644447.1:c.378C>A	ENSP00000496282.1:p.Asp126Glu
ENST00000644472.1:c.*386C>A	ENSP00000495378.1:n.*386C>A
ENST00000644484.1:c.*234C>A	ENSP00000493558.1:n.*234C>A
ENST00000644542.1:c.*1727C>A	ENSP00000495532.1:n.*1727C>A
ENST00000644649.1:c.1195C>A
ENST00000644675.1:c.*194C>A	ENSP00000494567.1:n.*194C>A
ENST00000644757.1:c.*327C>A	ENSP00000495085.1:n.*327C>A
ENST00000644772.1:c.2091C>A	ENSP00000494321.1:p.Asp697Glu
ENST00000645076.1:c.1277C>A
ENST00000645744.1:c.*386C>A	ENSP00000494564.1:n.*386C>A
ENST00000645760.1:c.2300C>A
ENST00000645884.1:c.2022C>A	ENSP00000495516.1:p.Asp674Glu
ENST00000646003.1:c.*163C>A	ENSP00000495259.1:n.*163C>A
ENST00000646207.1:c.*386C>A	ENSP00000495025.1:n.*386C>A
ENST00000646276.1:c.*295C>A	ENSP00000496070.1:n.*295C>A
ENST00000646592.1:c.1248C>A
ENST00000646902.1:c.2022C>A	ENSP00000494101.1:p.Asp674Glu
ENST00000646993.1:c.*421C>A	ENSP00000493720.1:n.*421C>A
ENST00000647013.1:c.2028C>A	ENSP00000496741.1:n.2028C>A
ENST00000647015.1:c.1773C>A	ENSP00000495389.1:p.Asp591Glu
ENST00000647086.1:c.*1752C>A	ENSP00000493677.1:n.*1752C>A
ENST00000647158.1:c.*163C>A	ENSP00000495744.1:n.*163C>A
ENST00000302539.8:c.2025C>A	ENSP00000303960.4:p.Asp675Glu
ENST00000389817.7:c.2025C>A	ENSP00000374467.3:p.Asp675Glu
ENST00000527905.5:c.1995C>A	ENSP00000431653.1:p.Asp665Glu
NM_000352.4:c.2025C>A	NP_000343.2:p.Asp675Glu
NM_001287174.1:c.2025C>A	NP_001274103.1:p.Asp675Glu
XM_011520331.1:c.2022C>A	XP_011518633.1:p.Asp674Glu
XM_011520332.1:c.2025C>A	XP_011518634.1:p.Asp675Glu
XM_011520333.1:c.522C>A	XP_011518635.1:p.Asp174Glu
XM_011520334.1:c.2025C>A	XP_011518636.1:p.Asp675Glu
XR_930890.1:n.2088C>A
XR_930891.1:n.2088C>A
XR_930892.1:n.2088C>A
XR_930893.1:n.2088C>A
NM_001351295.1:c.2091C>A	NP_001338224.1:p.Asp697Glu
NM_001351296.1:c.2022C>A	NP_001338225.1:p.Asp674Glu
NM_001351297.1:c.2022C>A	NP_001338226.1:p.Asp674Glu
NR_147094.1:n.2091C>A
XM_017018197.2:c.2091C>A	XP_016873686.1:p.Asp697Glu
XM_017018199.1:c.2088C>A	XP_016873688.1:p.Asp696Glu
XM_017018201.2:c.2091C>A	XP_016873690.1:p.Asp697Glu
XM_017018202.1:c.588C>A	XP_016873691.1:p.Asp196Glu
XM_017018204.1:c.-19C>A	XP_016873693.1:n.-19C>A
XM_024448668.1:c.390C>A	XP_024304436.1:p.Asp130Glu
XR_001747945.2:n.2163C>A
XR_001747946.2:n.2097C>A
XR_002957189.1:n.2163C>A
NM_000352.6:c.2025C>A MANE Select	NP_000343.2:p.Asp675Glu
NM_001287174.2:c.2025C>A	NP_001274103.1:p.Asp675Glu
NM_001351295.2:c.2091C>A	NP_001338224.1:p.Asp697Glu
NM_001351296.2:c.2022C>A	NP_001338225.1:p.Asp674Glu
NM_001351297.2:c.2022C>A	NP_001338226.1:p.Asp674Glu
NR_147094.2:n.2091C>A
NM_001287174.3:c.2025C>A	NP_001274103.1:p.Asp675Glu