Canonical Allele Identifier: CA473516136

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17449889G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17428342G>A , CM000673.2:g.17428342G>A	GRCh38
NC_000011.9:g.17449889G>A , CM000673.1:g.17449889G>A	GRCh37
NC_000011.8:g.17406465G>A	NCBI36
NG_008867.1:g.53561C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.1656C>T
ENST00000529967.6:n.246C>T
ENST00000642611.2:n.2053C>T
ENST00000682051.1:n.2000C>T
ENST00000682110.1:n.2053C>T
ENST00000682140.1:c.1984C>T	ENSP00000507829.1:p.Leu662=
ENST00000682185.1:n.3292C>T
ENST00000682204.1:c.*125C>T	ENSP00000507094.1:n.*125C>T
ENST00000682215.1:n.2053C>T
ENST00000682288.1:c.*415C>T	ENSP00000507506.1:n.*415C>T
ENST00000682442.1:n.2174C>T
ENST00000682528.1:n.2053C>T
ENST00000682673.1:n.2000C>T
ENST00000682805.1:n.2053C>T
ENST00000682965.1:c.1984C>T	ENSP00000508229.1:p.Leu662=
ENST00000683093.1:n.2155C>T
ENST00000683136.1:c.1984C>T	ENSP00000507768.1:p.Leu662=
ENST00000683153.1:n.2212C>T
ENST00000683253.1:n.3069C>T
ENST00000683365.1:n.2155C>T
ENST00000683377.1:n.2053C>T
ENST00000683456.1:c.1984C>T	ENSP00000508318.1:p.Leu662=
ENST00000683522.1:n.2053C>T
ENST00000683562.1:c.*156C>T	ENSP00000508265.1:n.*156C>T
ENST00000683693.1:n.2053C>T
ENST00000683725.1:c.1987C>T	ENSP00000507496.1:p.Leu663=
ENST00000684010.1:n.2053C>T
ENST00000684157.1:n.2053C>T
ENST00000684253.1:n.1959C>T
ENST00000684288.1:c.*156C>T	ENSP00000507143.1:n.*156C>T
ENST00000684313.1:n.1724-11380C>T
ENST00000684332.1:n.2126C>T
ENST00000684371.1:n.2159C>T
ENST00000684404.1:n.2053C>T
ENST00000684442.1:n.2053C>T
ENST00000684555.1:c.*196C>T	ENSP00000507705.1:n.*196C>T
ENST00000684571.1:c.1828C>T	ENSP00000506935.1:p.Leu610=
ENST00000684593.1:c.*1692C>T	ENSP00000507005.1:n.*1692C>T
ENST00000684711.1:c.*383C>T	ENSP00000506841.1:n.*383C>T
ENST00000302539.9:c.1987C>T	ENSP00000303960.4:p.Leu663=
ENST00000389817.8:c.1987C>T MANE Select	ENSP00000374467.4:p.Leu663=
ENST00000532728.6:c.1568C>T
ENST00000642271.1:c.1984C>T	ENSP00000493749.1:p.Leu662=
ENST00000642579.1:c.68C>T
ENST00000642611.1:n.1938C>T
ENST00000642902.1:c.1822C>T
ENST00000643260.1:c.1984C>T	ENSP00000494450.1:p.Leu662=
ENST00000643562.1:c.1979C>T	ENSP00000496124.1:p.Thr660Ile
ENST00000644447.1:c.340C>T	ENSP00000496282.1:p.Leu114=
ENST00000644472.1:c.*348C>T	ENSP00000495378.1:n.*348C>T
ENST00000644484.1:c.*196C>T	ENSP00000493558.1:n.*196C>T
ENST00000644542.1:c.*1689C>T	ENSP00000495532.1:n.*1689C>T
ENST00000644649.1:c.1157C>T
ENST00000644675.1:c.*156C>T	ENSP00000494567.1:n.*156C>T
ENST00000644757.1:c.*289C>T	ENSP00000495085.1:n.*289C>T
ENST00000644772.1:c.2053C>T	ENSP00000494321.1:p.Leu685=
ENST00000645076.1:c.1239C>T
ENST00000645744.1:c.*348C>T	ENSP00000494564.1:n.*348C>T
ENST00000645760.1:c.2262C>T
ENST00000645884.1:c.1984C>T	ENSP00000495516.1:p.Leu662=
ENST00000646003.1:c.*125C>T	ENSP00000495259.1:n.*125C>T
ENST00000646207.1:c.*348C>T	ENSP00000495025.1:n.*348C>T
ENST00000646276.1:c.*257C>T	ENSP00000496070.1:n.*257C>T
ENST00000646592.1:c.1210C>T
ENST00000646902.1:c.1984C>T	ENSP00000494101.1:p.Leu662=
ENST00000646993.1:c.*383C>T	ENSP00000493720.1:n.*383C>T
ENST00000647013.1:c.1990C>T	ENSP00000496741.1:n.1990C>T
ENST00000647015.1:c.1735C>T	ENSP00000495389.1:p.Leu579=
ENST00000647086.1:c.*1714C>T	ENSP00000493677.1:n.*1714C>T
ENST00000647158.1:c.*125C>T	ENSP00000495744.1:n.*125C>T
ENST00000302539.8:c.1987C>T	ENSP00000303960.4:p.Leu663=
ENST00000389817.7:c.1987C>T	ENSP00000374467.3:p.Leu663=
ENST00000527905.5:c.1957C>T	ENSP00000431653.1:p.Leu653=
NM_000352.4:c.1987C>T	NP_000343.2:p.Leu663=
NM_001287174.1:c.1987C>T	NP_001274103.1:p.Leu663=
XM_011520331.1:c.1984C>T	XP_011518633.1:p.Leu662=
XM_011520332.1:c.1987C>T	XP_011518634.1:p.Leu663=
XM_011520333.1:c.484C>T	XP_011518635.1:p.Leu162=
XM_011520334.1:c.1987C>T	XP_011518636.1:p.Leu663=
XR_930890.1:n.2050C>T
XR_930891.1:n.2050C>T
XR_930892.1:n.2050C>T
XR_930893.1:n.2050C>T
NM_001351295.1:c.2053C>T	NP_001338224.1:p.Leu685=
NM_001351296.1:c.1984C>T	NP_001338225.1:p.Leu662=
NM_001351297.1:c.1984C>T	NP_001338226.1:p.Leu662=
NR_147094.1:n.2053C>T
XM_017018197.2:c.2053C>T	XP_016873686.1:p.Leu685=
XM_017018199.1:c.2050C>T	XP_016873688.1:p.Leu684=
XM_017018201.2:c.2053C>T	XP_016873690.1:p.Leu685=
XM_017018202.1:c.550C>T	XP_016873691.1:p.Leu184=
XM_017018204.1:c.-57C>T	XP_016873693.1:n.-57C>T
XM_024448668.1:c.352C>T	XP_024304436.1:p.Leu118=
XR_001747945.2:n.2125C>T
XR_001747946.2:n.2059C>T
XR_002957189.1:n.2125C>T
NM_000352.6:c.1987C>T MANE Select	NP_000343.2:p.Leu663=
NM_001287174.2:c.1987C>T	NP_001274103.1:p.Leu663=
NM_001351295.2:c.2053C>T	NP_001338224.1:p.Leu685=
NM_001351296.2:c.1984C>T	NP_001338225.1:p.Leu662=
NM_001351297.2:c.1984C>T	NP_001338226.1:p.Leu662=
NR_147094.2:n.2053C>T
NM_001287174.3:c.1987C>T	NP_001274103.1:p.Leu663=