Canonical Allele Identifier: CA5903373

Gene: ABCC8

Linked Data

• dbSNP Id: rs751584781
• ExAC: 11:17449944 C / A
• gnomAD v2: 11-17449944-C-A
• gnomAD v3: 11-17428397-C-A
• gnomAD v4: 11-17428397-C-A
• MyVariant Identifiers: chr11:g.17449944C>A (hg19) ; chr11:g.17428397C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17428397C>A , CM000673.2:g.17428397C>A	GRCh38
NC_000011.9:g.17449944C>A , CM000673.1:g.17449944C>A	GRCh37
NC_000011.8:g.17406520C>A	NCBI36
NG_008867.1:g.53506G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.1601G>T
ENST00000529967.6:n.191G>T
ENST00000642611.2:n.1998G>T
ENST00000682051.1:n.1945G>T
ENST00000682110.1:n.1998G>T
ENST00000682140.1:c.1929G>T	ENSP00000507829.1:p.Arg643Ser
ENST00000682185.1:n.3237G>T
ENST00000682204.1:c.*70G>T	ENSP00000507094.1:n.*70G>T
ENST00000682215.1:n.1998G>T
ENST00000682288.1:c.*360G>T	ENSP00000507506.1:n.*360G>T
ENST00000682442.1:n.2119G>T
ENST00000682528.1:n.1998G>T
ENST00000682673.1:n.1945G>T
ENST00000682805.1:n.1998G>T
ENST00000682965.1:c.1929G>T	ENSP00000508229.1:p.Arg643Ser
ENST00000683093.1:n.2100G>T
ENST00000683136.1:c.1929G>T	ENSP00000507768.1:p.Arg643Ser
ENST00000683153.1:n.2157G>T
ENST00000683253.1:n.3014G>T
ENST00000683365.1:n.2100G>T
ENST00000683377.1:n.1998G>T
ENST00000683456.1:c.1929G>T	ENSP00000508318.1:p.Arg643Ser
ENST00000683522.1:n.1998G>T
ENST00000683562.1:c.*101G>T	ENSP00000508265.1:n.*101G>T
ENST00000683693.1:n.1998G>T
ENST00000683725.1:c.1932G>T	ENSP00000507496.1:p.Arg644Ser
ENST00000684010.1:n.1998G>T
ENST00000684157.1:n.1998G>T
ENST00000684253.1:n.1904G>T
ENST00000684288.1:c.*101G>T	ENSP00000507143.1:n.*101G>T
ENST00000684313.1:n.1724-11435G>T
ENST00000684332.1:n.2071G>T
ENST00000684371.1:n.2104G>T
ENST00000684404.1:n.1998G>T
ENST00000684442.1:n.1998G>T
ENST00000684555.1:c.*141G>T	ENSP00000507705.1:n.*141G>T
ENST00000684571.1:c.1773G>T	ENSP00000506935.1:p.Arg591Ser
ENST00000684593.1:c.*1637G>T	ENSP00000507005.1:n.*1637G>T
ENST00000684711.1:c.*328G>T	ENSP00000506841.1:n.*328G>T
ENST00000302539.9:c.1932G>T	ENSP00000303960.4:p.Arg644Ser
ENST00000389817.8:c.1932G>T MANE Select	ENSP00000374467.4:p.Arg644Ser
ENST00000532728.6:c.1513G>T
ENST00000642271.1:c.1929G>T	ENSP00000493749.1:p.Arg643Ser
ENST00000642579.1:c.13G>T
ENST00000642611.1:n.1883G>T
ENST00000642902.1:c.1767G>T
ENST00000643260.1:c.1929G>T	ENSP00000494450.1:p.Arg643Ser
ENST00000643562.1:c.1924G>T	ENSP00000496124.1:p.Gly642Cys
ENST00000644447.1:c.285G>T	ENSP00000496282.1:p.Arg95Ser
ENST00000644472.1:c.*293G>T	ENSP00000495378.1:n.*293G>T
ENST00000644484.1:c.*141G>T	ENSP00000493558.1:n.*141G>T
ENST00000644542.1:c.*1634G>T	ENSP00000495532.1:n.*1634G>T
ENST00000644649.1:c.1102G>T
ENST00000644675.1:c.*101G>T	ENSP00000494567.1:n.*101G>T
ENST00000644757.1:c.*234G>T	ENSP00000495085.1:n.*234G>T
ENST00000644772.1:c.1998G>T	ENSP00000494321.1:p.Arg666Ser
ENST00000645076.1:c.1184G>T
ENST00000645744.1:c.*293G>T	ENSP00000494564.1:n.*293G>T
ENST00000645760.1:c.2207G>T
ENST00000645884.1:c.1929G>T	ENSP00000495516.1:p.Arg643Ser
ENST00000646003.1:c.*70G>T	ENSP00000495259.1:n.*70G>T
ENST00000646207.1:c.*293G>T	ENSP00000495025.1:n.*293G>T
ENST00000646276.1:c.*202G>T	ENSP00000496070.1:n.*202G>T
ENST00000646592.1:c.1155G>T
ENST00000646902.1:c.1929G>T	ENSP00000494101.1:p.Arg643Ser
ENST00000646993.1:c.*328G>T	ENSP00000493720.1:n.*328G>T
ENST00000647013.1:c.1935G>T	ENSP00000496741.1:n.1935G>T
ENST00000647015.1:c.1680G>T	ENSP00000495389.1:p.Arg560Ser
ENST00000647086.1:c.*1659G>T	ENSP00000493677.1:n.*1659G>T
ENST00000647158.1:c.*70G>T	ENSP00000495744.1:n.*70G>T
ENST00000302539.8:c.1932G>T	ENSP00000303960.4:p.Arg644Ser
ENST00000389817.7:c.1932G>T	ENSP00000374467.3:p.Arg644Ser
ENST00000527905.5:c.1902G>T	ENSP00000431653.1:p.Arg634Ser
NM_000352.4:c.1932G>T	NP_000343.2:p.Arg644Ser
NM_001287174.1:c.1932G>T	NP_001274103.1:p.Arg644Ser
XM_011520331.1:c.1929G>T	XP_011518633.1:p.Arg643Ser
XM_011520332.1:c.1932G>T	XP_011518634.1:p.Arg644Ser
XM_011520333.1:c.429G>T	XP_011518635.1:p.Arg143Ser
XM_011520334.1:c.1932G>T	XP_011518636.1:p.Arg644Ser
XR_930890.1:n.1995G>T
XR_930891.1:n.1995G>T
XR_930892.1:n.1995G>T
XR_930893.1:n.1995G>T
NM_001351295.1:c.1998G>T	NP_001338224.1:p.Arg666Ser
NM_001351296.1:c.1929G>T	NP_001338225.1:p.Arg643Ser
NM_001351297.1:c.1929G>T	NP_001338226.1:p.Arg643Ser
NR_147094.1:n.1998G>T
XM_017018197.2:c.1998G>T	XP_016873686.1:p.Arg666Ser
XM_017018199.1:c.1995G>T	XP_016873688.1:p.Arg665Ser
XM_017018201.2:c.1998G>T	XP_016873690.1:p.Arg666Ser
XM_017018202.1:c.495G>T	XP_016873691.1:p.Arg165Ser
XM_017018204.1:c.-112G>T	XP_016873693.1:n.-112G>T
XM_024448668.1:c.297G>T	XP_024304436.1:p.Arg99Ser
XR_001747945.2:n.2070G>T
XR_001747946.2:n.2004G>T
XR_002957189.1:n.2070G>T
NM_000352.6:c.1932G>T MANE Select	NP_000343.2:p.Arg644Ser
NM_001287174.2:c.1932G>T	NP_001274103.1:p.Arg644Ser
NM_001351295.2:c.1998G>T	NP_001338224.1:p.Arg666Ser
NM_001351296.2:c.1929G>T	NP_001338225.1:p.Arg643Ser
NM_001351297.2:c.1929G>T	NP_001338226.1:p.Arg643Ser
NR_147094.2:n.1998G>T
NM_001287174.3:c.1932G>T	NP_001274103.1:p.Arg644Ser