Canonical Allele Identifier: CA379815223

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17449882C>A (hg19) ; chr11:g.17428335C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17428335C>A , CM000673.2:g.17428335C>A	GRCh38
NC_000011.9:g.17449882C>A , CM000673.1:g.17449882C>A	GRCh37
NC_000011.8:g.17406458C>A	NCBI36
NG_008867.1:g.53568G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.1663G>T
ENST00000529967.6:n.253G>T
ENST00000642611.2:n.2060G>T
ENST00000682051.1:n.2007G>T
ENST00000682110.1:n.2060G>T
ENST00000682140.1:c.1991G>T	ENSP00000507829.1:p.Ser664Ile
ENST00000682185.1:n.3299G>T
ENST00000682204.1:c.*132G>T	ENSP00000507094.1:n.*132G>T
ENST00000682215.1:n.2060G>T
ENST00000682288.1:c.*422G>T	ENSP00000507506.1:n.*422G>T
ENST00000682442.1:n.2181G>T
ENST00000682528.1:n.2060G>T
ENST00000682673.1:n.2007G>T
ENST00000682805.1:n.2060G>T
ENST00000682965.1:c.1991G>T	ENSP00000508229.1:p.Ser664Ile
ENST00000683093.1:n.2162G>T
ENST00000683136.1:c.1991G>T	ENSP00000507768.1:p.Ser664Ile
ENST00000683153.1:n.2219G>T
ENST00000683253.1:n.3076G>T
ENST00000683365.1:n.2162G>T
ENST00000683377.1:n.2060G>T
ENST00000683456.1:c.1991G>T	ENSP00000508318.1:p.Ser664Ile
ENST00000683522.1:n.2060G>T
ENST00000683562.1:c.*163G>T	ENSP00000508265.1:n.*163G>T
ENST00000683693.1:n.2060G>T
ENST00000683725.1:c.1994G>T	ENSP00000507496.1:p.Ser665Ile
ENST00000684010.1:n.2060G>T
ENST00000684157.1:n.2060G>T
ENST00000684253.1:n.1966G>T
ENST00000684288.1:c.*163G>T	ENSP00000507143.1:n.*163G>T
ENST00000684313.1:n.1724-11373G>T
ENST00000684332.1:n.2133G>T
ENST00000684371.1:n.2166G>T
ENST00000684404.1:n.2060G>T
ENST00000684442.1:n.2060G>T
ENST00000684555.1:c.*203G>T	ENSP00000507705.1:n.*203G>T
ENST00000684571.1:c.1835G>T	ENSP00000506935.1:p.Ser612Ile
ENST00000684593.1:c.*1699G>T	ENSP00000507005.1:n.*1699G>T
ENST00000684711.1:c.*390G>T	ENSP00000506841.1:n.*390G>T
ENST00000302539.9:c.1994G>T	ENSP00000303960.4:p.Ser665Ile
ENST00000389817.8:c.1994G>T MANE Select	ENSP00000374467.4:p.Ser665Ile
ENST00000532728.6:c.1575G>T
ENST00000642271.1:c.1991G>T	ENSP00000493749.1:p.Ser664Ile
ENST00000642579.1:c.75G>T
ENST00000642611.1:n.1945G>T
ENST00000642902.1:c.1829G>T
ENST00000643260.1:c.1991G>T	ENSP00000494450.1:p.Ser664Ile
ENST00000643562.1:c.1986G>T	ENSP00000496124.1:p.Glu662Asp
ENST00000644447.1:c.347G>T	ENSP00000496282.1:p.Ser116Ile
ENST00000644472.1:c.*355G>T	ENSP00000495378.1:n.*355G>T
ENST00000644484.1:c.*203G>T	ENSP00000493558.1:n.*203G>T
ENST00000644542.1:c.*1696G>T	ENSP00000495532.1:n.*1696G>T
ENST00000644649.1:c.1164G>T
ENST00000644675.1:c.*163G>T	ENSP00000494567.1:n.*163G>T
ENST00000644757.1:c.*296G>T	ENSP00000495085.1:n.*296G>T
ENST00000644772.1:c.2060G>T	ENSP00000494321.1:p.Ser687Ile
ENST00000645076.1:c.1246G>T
ENST00000645744.1:c.*355G>T	ENSP00000494564.1:n.*355G>T
ENST00000645760.1:c.2269G>T
ENST00000645884.1:c.1991G>T	ENSP00000495516.1:p.Ser664Ile
ENST00000646003.1:c.*132G>T	ENSP00000495259.1:n.*132G>T
ENST00000646207.1:c.*355G>T	ENSP00000495025.1:n.*355G>T
ENST00000646276.1:c.*264G>T	ENSP00000496070.1:n.*264G>T
ENST00000646592.1:c.1217G>T
ENST00000646902.1:c.1991G>T	ENSP00000494101.1:p.Ser664Ile
ENST00000646993.1:c.*390G>T	ENSP00000493720.1:n.*390G>T
ENST00000647013.1:c.1997G>T	ENSP00000496741.1:n.1997G>T
ENST00000647015.1:c.1742G>T	ENSP00000495389.1:p.Ser581Ile
ENST00000647086.1:c.*1721G>T	ENSP00000493677.1:n.*1721G>T
ENST00000647158.1:c.*132G>T	ENSP00000495744.1:n.*132G>T
ENST00000302539.8:c.1994G>T	ENSP00000303960.4:p.Ser665Ile
ENST00000389817.7:c.1994G>T	ENSP00000374467.3:p.Ser665Ile
ENST00000527905.5:c.1964G>T	ENSP00000431653.1:p.Ser655Ile
NM_000352.4:c.1994G>T	NP_000343.2:p.Ser665Ile
NM_001287174.1:c.1994G>T	NP_001274103.1:p.Ser665Ile
XM_011520331.1:c.1991G>T	XP_011518633.1:p.Ser664Ile
XM_011520332.1:c.1994G>T	XP_011518634.1:p.Ser665Ile
XM_011520333.1:c.491G>T	XP_011518635.1:p.Ser164Ile
XM_011520334.1:c.1994G>T	XP_011518636.1:p.Ser665Ile
XR_930890.1:n.2057G>T
XR_930891.1:n.2057G>T
XR_930892.1:n.2057G>T
XR_930893.1:n.2057G>T
NM_001351295.1:c.2060G>T	NP_001338224.1:p.Ser687Ile
NM_001351296.1:c.1991G>T	NP_001338225.1:p.Ser664Ile
NM_001351297.1:c.1991G>T	NP_001338226.1:p.Ser664Ile
NR_147094.1:n.2060G>T
XM_017018197.2:c.2060G>T	XP_016873686.1:p.Ser687Ile
XM_017018199.1:c.2057G>T	XP_016873688.1:p.Ser686Ile
XM_017018201.2:c.2060G>T	XP_016873690.1:p.Ser687Ile
XM_017018202.1:c.557G>T	XP_016873691.1:p.Ser186Ile
XM_017018204.1:c.-50G>T	XP_016873693.1:n.-50G>T
XM_024448668.1:c.359G>T	XP_024304436.1:p.Ser120Ile
XR_001747945.2:n.2132G>T
XR_001747946.2:n.2066G>T
XR_002957189.1:n.2132G>T
NM_000352.6:c.1994G>T MANE Select	NP_000343.2:p.Ser665Ile
NM_001287174.2:c.1994G>T	NP_001274103.1:p.Ser665Ile
NM_001351295.2:c.2060G>T	NP_001338224.1:p.Ser687Ile
NM_001351296.2:c.1991G>T	NP_001338225.1:p.Ser664Ile
NM_001351297.2:c.1991G>T	NP_001338226.1:p.Ser664Ile
NR_147094.2:n.2060G>T
NM_001287174.3:c.1994G>T	NP_001274103.1:p.Ser665Ile