Canonical Allele Identifier: CA379815746

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17450151C>A (hg19) ; chr11:g.17428604C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17428604C>A , CM000673.2:g.17428604C>A	GRCh38
NC_000011.9:g.17450151C>A , CM000673.1:g.17450151C>A	GRCh37
NC_000011.8:g.17406727C>A	NCBI36
NG_008867.1:g.53299G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.1553G>T
ENST00000642611.2:n.1950G>T
ENST00000682051.1:n.1897G>T
ENST00000682110.1:n.1950G>T
ENST00000682140.1:c.1881G>T	ENSP00000507829.1:p.Glu627Asp
ENST00000682185.1:n.3189G>T
ENST00000682204.1:c.*22G>T	ENSP00000507094.1:n.*22G>T
ENST00000682215.1:n.1950G>T
ENST00000682288.1:c.*312G>T	ENSP00000507506.1:n.*312G>T
ENST00000682442.1:n.2071G>T
ENST00000682528.1:n.1950G>T
ENST00000682673.1:n.1897G>T
ENST00000682805.1:n.1950G>T
ENST00000682965.1:c.1881G>T	ENSP00000508229.1:p.Glu627Asp
ENST00000683093.1:n.2052G>T
ENST00000683136.1:c.1881G>T	ENSP00000507768.1:p.Glu627Asp
ENST00000683153.1:n.1950G>T
ENST00000683253.1:n.2966G>T
ENST00000683365.1:n.2052G>T
ENST00000683377.1:n.1950G>T
ENST00000683456.1:c.1881G>T	ENSP00000508318.1:p.Glu627Asp
ENST00000683522.1:n.1950G>T
ENST00000683562.1:c.*53G>T	ENSP00000508265.1:n.*53G>T
ENST00000683693.1:n.1950G>T
ENST00000683725.1:c.1884G>T	ENSP00000507496.1:p.Glu628Asp
ENST00000684010.1:n.1950G>T
ENST00000684157.1:n.1950G>T
ENST00000684253.1:n.1856G>T
ENST00000684288.1:c.*53G>T	ENSP00000507143.1:n.*53G>T
ENST00000684313.1:n.1724-11642G>T
ENST00000684332.1:n.2023G>T
ENST00000684371.1:n.1897G>T
ENST00000684404.1:n.1950G>T
ENST00000684442.1:n.1950G>T
ENST00000684555.1:c.*93G>T	ENSP00000507705.1:n.*93G>T
ENST00000684571.1:c.1725G>T	ENSP00000506935.1:p.Glu575Asp
ENST00000684593.1:c.*1589G>T	ENSP00000507005.1:n.*1589G>T
ENST00000684711.1:c.*280G>T	ENSP00000506841.1:n.*280G>T
ENST00000302539.9:c.1884G>T	ENSP00000303960.4:p.Glu628Asp
ENST00000389817.8:c.1884G>T MANE Select	ENSP00000374467.4:p.Glu628Asp
ENST00000532728.6:c.1465G>T
ENST00000642271.1:c.1881G>T	ENSP00000493749.1:p.Glu627Asp
ENST00000642611.1:n.1835G>T
ENST00000642902.1:c.1719G>T
ENST00000643260.1:c.1881G>T	ENSP00000494450.1:p.Glu627Asp
ENST00000643562.1:c.1884G>T	ENSP00000496124.1:p.Glu628Asp
ENST00000644447.1:c.237G>T	ENSP00000496282.1:p.Glu79Asp
ENST00000644472.1:c.*245G>T	ENSP00000495378.1:n.*245G>T
ENST00000644484.1:c.*93G>T	ENSP00000493558.1:n.*93G>T
ENST00000644542.1:c.*1586G>T	ENSP00000495532.1:n.*1586G>T
ENST00000644649.1:c.1054G>T
ENST00000644675.1:c.*53G>T	ENSP00000494567.1:n.*53G>T
ENST00000644757.1:c.*186G>T	ENSP00000495085.1:n.*186G>T
ENST00000644772.1:c.1884G>T	ENSP00000494321.1:p.Glu628Asp
ENST00000645076.1:c.1136G>T
ENST00000645744.1:c.*245G>T	ENSP00000494564.1:n.*245G>T
ENST00000645760.1:c.2159G>T
ENST00000645884.1:c.1881G>T	ENSP00000495516.1:p.Glu627Asp
ENST00000646003.1:c.*22G>T	ENSP00000495259.1:n.*22G>T
ENST00000646207.1:c.*245G>T	ENSP00000495025.1:n.*245G>T
ENST00000646276.1:c.*154G>T	ENSP00000496070.1:n.*154G>T
ENST00000646592.1:c.948G>T
ENST00000646902.1:c.1881G>T	ENSP00000494101.1:p.Glu627Asp
ENST00000646993.1:c.*280G>T	ENSP00000493720.1:n.*280G>T
ENST00000647013.1:c.1887G>T	ENSP00000496741.1:n.1887G>T
ENST00000647015.1:c.1672-199G>T	ENSP00000495389.1:n.1672-199G>T
ENST00000647086.1:c.*1611G>T	ENSP00000493677.1:n.*1611G>T
ENST00000647158.1:c.*22G>T	ENSP00000495744.1:n.*22G>T
ENST00000302539.8:c.1884G>T	ENSP00000303960.4:p.Glu628Asp
ENST00000389817.7:c.1884G>T	ENSP00000374467.3:p.Glu628Asp
ENST00000527905.5:c.1854G>T	ENSP00000431653.1:p.Glu618Asp
NM_000352.4:c.1884G>T	NP_000343.2:p.Glu628Asp
NM_001287174.1:c.1884G>T	NP_001274103.1:p.Glu628Asp
XM_011520331.1:c.1881G>T	XP_011518633.1:p.Glu627Asp
XM_011520332.1:c.1884G>T	XP_011518634.1:p.Glu628Asp
XM_011520333.1:c.381G>T	XP_011518635.1:p.Glu127Asp
XM_011520334.1:c.1884G>T	XP_011518636.1:p.Glu628Asp
XR_930890.1:n.1947G>T
XR_930891.1:n.1947G>T
XR_930892.1:n.1947G>T
XR_930893.1:n.1947G>T
NM_001351295.1:c.1884G>T	NP_001338224.1:p.Glu628Asp
NM_001351296.1:c.1881G>T	NP_001338225.1:p.Glu627Asp
NM_001351297.1:c.1881G>T	NP_001338226.1:p.Glu627Asp
NR_147094.1:n.1950G>T
XM_017018197.2:c.1884G>T	XP_016873686.1:p.Glu628Asp
XM_017018199.1:c.1881G>T	XP_016873688.1:p.Glu627Asp
XM_017018201.2:c.1884G>T	XP_016873690.1:p.Glu628Asp
XM_017018202.1:c.381G>T	XP_016873691.1:p.Glu127Asp
XM_017018204.1:c.-160G>T	XP_016873693.1:n.-160G>T
XM_024448668.1:c.249G>T	XP_024304436.1:p.Glu83Asp
XR_001747945.2:n.1956G>T
XR_001747946.2:n.1956G>T
XR_002957189.1:n.1956G>T
NM_000352.6:c.1884G>T MANE Select	NP_000343.2:p.Glu628Asp
NM_001287174.2:c.1884G>T	NP_001274103.1:p.Glu628Asp
NM_001351295.2:c.1884G>T	NP_001338224.1:p.Glu628Asp
NM_001351296.2:c.1881G>T	NP_001338225.1:p.Glu627Asp
NM_001351297.2:c.1881G>T	NP_001338226.1:p.Glu627Asp
NR_147094.2:n.1950G>T
NM_001287174.3:c.1884G>T	NP_001274103.1:p.Glu628Asp