Canonical Allele Identifier: CA379806049

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17432086G>C (hg19) ; chr11:g.17410539G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17410539G>C , CM000673.2:g.17410539G>C	GRCh38
NC_000011.9:g.17432086G>C , CM000673.1:g.17432086G>C	GRCh37
NC_000011.8:g.17388662G>C	NCBI36
NG_008867.1:g.71364C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2340C>G
ENST00000529967.6:n.930C>G
ENST00000642611.2:n.2740C>G
ENST00000682051.1:n.2687C>G
ENST00000682110.1:n.2740C>G
ENST00000682140.1:c.2668C>G	ENSP00000507829.1:p.Gln890Glu
ENST00000682185.1:n.3976C>G
ENST00000682204.1:c.*809C>G	ENSP00000507094.1:n.*809C>G
ENST00000682215.1:n.2737C>G
ENST00000682288.1:c.*1102C>G	ENSP00000507506.1:n.*1102C>G
ENST00000682442.1:n.2861C>G
ENST00000682528.1:n.2737C>G
ENST00000682673.1:n.2684C>G
ENST00000682805.1:n.2737C>G
ENST00000682965.1:c.2668C>G	ENSP00000508229.1:p.Gln890Glu
ENST00000683093.1:n.2839C>G
ENST00000683136.1:c.2668C>G	ENSP00000507768.1:p.Gln890Glu
ENST00000683153.1:n.2896C>G
ENST00000683365.1:n.2842C>G
ENST00000683377.1:n.2740C>G
ENST00000683456.1:c.2671C>G	ENSP00000508318.1:p.Gln891Glu
ENST00000683522.1:n.2740C>G
ENST00000683562.1:c.*840C>G	ENSP00000508265.1:n.*840C>G
ENST00000683693.1:n.2737C>G
ENST00000683725.1:c.2671C>G	ENSP00000507496.1:p.Gln891Glu
ENST00000684010.1:n.2655C>G
ENST00000684157.1:n.2740C>G
ENST00000684253.1:n.2643C>G
ENST00000684288.1:c.*843C>G	ENSP00000507143.1:n.*843C>G
ENST00000684313.1:n.2172C>G
ENST00000684332.1:n.2813C>G
ENST00000684371.1:n.2846C>G
ENST00000684404.1:n.2737C>G
ENST00000684442.1:n.2740C>G
ENST00000684555.1:c.*883C>G	ENSP00000507705.1:n.*883C>G
ENST00000684571.1:c.2512C>G	ENSP00000506935.1:p.Gln838Glu
ENST00000684593.1:c.*2376C>G	ENSP00000507005.1:n.*2376C>G
ENST00000684711.1:c.*1067C>G	ENSP00000506841.1:n.*1067C>G
ENST00000302539.9:c.2674C>G	ENSP00000303960.4:p.Gln892Glu
ENST00000389817.8:c.2671C>G MANE Select	ENSP00000374467.4:p.Gln891Glu
ENST00000642271.1:c.2668C>G	ENSP00000493749.1:p.Gln890Glu
ENST00000642579.1:c.755C>G
ENST00000642611.1:n.2625C>G
ENST00000642902.1:c.2506C>G
ENST00000643260.1:c.2671C>G	ENSP00000494450.1:p.Gln891Glu
ENST00000643562.1:c.*647C>G	ENSP00000496124.1:n.*647C>G
ENST00000643925.1:c.715C>G
ENST00000644447.1:c.1027C>G	ENSP00000496282.1:p.Gln343Glu
ENST00000644472.1:c.*1032C>G	ENSP00000495378.1:n.*1032C>G
ENST00000644484.1:c.*880C>G	ENSP00000493558.1:n.*880C>G
ENST00000644542.1:c.*2376C>G	ENSP00000495532.1:n.*2376C>G
ENST00000644675.1:c.*843C>G	ENSP00000494567.1:n.*843C>G
ENST00000644757.1:c.*976C>G	ENSP00000495085.1:n.*976C>G
ENST00000644772.1:c.2737C>G	ENSP00000494321.1:p.Gln913Glu
ENST00000645076.1:c.1923C>G
ENST00000645744.1:c.*1035C>G	ENSP00000494564.1:n.*1035C>G
ENST00000645760.1:c.2946C>G
ENST00000645884.1:c.2671C>G	ENSP00000495516.1:p.Gln891Glu
ENST00000646003.1:c.*727C>G	ENSP00000495259.1:n.*727C>G
ENST00000646207.1:c.*1035C>G	ENSP00000495025.1:n.*1035C>G
ENST00000646276.1:c.*944C>G	ENSP00000496070.1:n.*944C>G
ENST00000646592.1:c.1897C>G
ENST00000646902.1:c.2668C>G	ENSP00000494101.1:p.Gln890Glu
ENST00000646993.1:c.*1067C>G	ENSP00000493720.1:n.*1067C>G
ENST00000647013.1:c.2677C>G	ENSP00000496741.1:n.2677C>G
ENST00000647015.1:c.2422C>G	ENSP00000495389.1:p.Gln808Glu
ENST00000647086.1:c.*2401C>G	ENSP00000493677.1:n.*2401C>G
ENST00000647158.1:c.*812C>G	ENSP00000495744.1:n.*812C>G
ENST00000302539.8:c.2674C>G	ENSP00000303960.4:p.Gln892Glu
ENST00000389817.7:c.2671C>G	ENSP00000374467.3:p.Gln891Glu
ENST00000526921.5:n.355C>G
ENST00000527905.5:c.2641C>G	ENSP00000431653.1:p.Gln881Glu
ENST00000529967.5:n.340C>G
ENST00000530147.5:n.254C>G
NM_000352.4:c.2671C>G	NP_000343.2:p.Gln891Glu
NM_001287174.1:c.2674C>G	NP_001274103.1:p.Gln892Glu
XM_011520331.1:c.2671C>G	XP_011518633.1:p.Gln891Glu
XM_011520332.1:c.2674C>G	XP_011518634.1:p.Gln892Glu
XM_011520333.1:c.1171C>G	XP_011518635.1:p.Gln391Glu
XM_011520334.1:c.2674C>G	XP_011518636.1:p.Gln892Glu
XR_930890.1:n.2737C>G
XR_930891.1:n.2737C>G
XR_930892.1:n.2737C>G
XR_930893.1:n.2734C>G
NM_001351295.1:c.2737C>G	NP_001338224.1:p.Gln913Glu
NM_001351296.1:c.2671C>G	NP_001338225.1:p.Gln891Glu
NM_001351297.1:c.2668C>G	NP_001338226.1:p.Gln890Glu
NR_147094.1:n.2740C>G
XM_017018197.2:c.2740C>G	XP_016873686.1:p.Gln914Glu
XM_017018199.1:c.2737C>G	XP_016873688.1:p.Gln913Glu
XM_017018201.2:c.2740C>G	XP_016873690.1:p.Gln914Glu
XM_017018202.1:c.1237C>G	XP_016873691.1:p.Gln413Glu
XM_017018204.1:c.628C>G	XP_016873693.1:p.Gln210Glu
XM_024448668.1:c.1039C>G	XP_024304436.1:p.Gln347Glu
XR_001747945.2:n.2812C>G
XR_001747946.2:n.2743C>G
XR_002957189.1:n.2812C>G
NM_000352.6:c.2671C>G MANE Select	NP_000343.2:p.Gln891Glu
NM_001287174.2:c.2674C>G	NP_001274103.1:p.Gln892Glu
NM_001351295.2:c.2737C>G	NP_001338224.1:p.Gln913Glu
NM_001351296.2:c.2671C>G	NP_001338225.1:p.Gln891Glu
NM_001351297.2:c.2668C>G	NP_001338226.1:p.Gln890Glu
NR_147094.2:n.2740C>G
NM_001287174.3:c.2674C>G	NP_001274103.1:p.Gln892Glu