Canonical Allele Identifier: CA473300559

Gene: ABCC8

Linked Data

• ClinVar Variation Id: 2719203
• ClinVar RCV Id: RCV003553529
• MyVariant Identifiers: chr11:g.17482113C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17460566C>A , CM000673.2:g.17460566C>A	GRCh38
NC_000011.9:g.17482113C>A , CM000673.1:g.17482113C>A	GRCh37
NC_000011.8:g.17438689C>A	NCBI36
NG_008867.1:g.21337G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.648+2872G>T
ENST00000526002.2:n.946G>T
ENST00000528202.6:n.999G>T
ENST00000642611.2:n.999G>T
ENST00000682051.1:n.946G>T
ENST00000682091.1:n.1908G>T
ENST00000682110.1:n.999G>T
ENST00000682140.1:c.930G>T	ENSP00000507829.1:p.Leu310=
ENST00000682199.1:n.999G>T
ENST00000682204.1:c.930G>T	ENSP00000507094.1:p.Leu310=
ENST00000682215.1:n.999G>T
ENST00000682288.1:c.930G>T	ENSP00000507506.1:p.Leu310=
ENST00000682442.1:n.1033G>T
ENST00000682528.1:n.999G>T
ENST00000682673.1:n.946G>T
ENST00000682805.1:n.999G>T
ENST00000682863.1:n.999G>T
ENST00000682965.1:c.930G>T	ENSP00000508229.1:p.Leu310=
ENST00000683093.1:n.999G>T
ENST00000683136.1:c.930G>T	ENSP00000507768.1:p.Leu310=
ENST00000683153.1:n.999G>T
ENST00000683253.1:n.1913G>T
ENST00000683365.1:n.999G>T
ENST00000683377.1:n.999G>T
ENST00000683456.1:c.930G>T	ENSP00000508318.1:p.Leu310=
ENST00000683522.1:n.999G>T
ENST00000683531.1:n.1002G>T
ENST00000683562.1:c.933G>T	ENSP00000508265.1:p.Leu311=
ENST00000683693.1:n.999G>T
ENST00000683725.1:c.933G>T	ENSP00000507496.1:p.Leu311=
ENST00000683808.1:n.269G>T
ENST00000684010.1:n.999G>T
ENST00000684157.1:n.999G>T
ENST00000684221.1:n.1769G>T
ENST00000684253.1:n.1051G>T
ENST00000684288.1:c.933G>T	ENSP00000507143.1:p.Leu311=
ENST00000684313.1:n.1026G>T
ENST00000684332.1:n.999G>T
ENST00000684371.1:n.946G>T
ENST00000684404.1:n.999G>T
ENST00000684442.1:n.999G>T
ENST00000684555.1:c.933G>T	ENSP00000507705.1:p.Leu311=
ENST00000684571.1:c.930G>T	ENSP00000506935.1:p.Leu310=
ENST00000684593.1:c.*638G>T	ENSP00000507005.1:n.*638G>T
ENST00000684711.1:c.930G>T	ENSP00000506841.1:p.Leu310=
ENST00000302539.9:c.933G>T	ENSP00000303960.4:p.Leu311=
ENST00000389817.8:c.933G>T MANE Select	ENSP00000374467.4:p.Leu311=
ENST00000532728.6:c.809G>T
ENST00000635881.1:n.961G>T
ENST00000642271.1:c.930G>T	ENSP00000493749.1:p.Leu310=
ENST00000642611.1:n.884G>T
ENST00000642902.1:c.914G>T
ENST00000643260.1:c.930G>T	ENSP00000494450.1:p.Leu310=
ENST00000643562.1:c.933G>T	ENSP00000496124.1:p.Leu311=
ENST00000644472.1:c.930G>T	ENSP00000495378.1:p.Leu310=
ENST00000644484.1:c.930G>T	ENSP00000493558.1:p.Leu310=
ENST00000644542.1:c.*635G>T	ENSP00000495532.1:n.*635G>T
ENST00000644675.1:c.930G>T	ENSP00000494567.1:p.Leu310=
ENST00000644757.1:c.933G>T	ENSP00000495085.1:p.Leu311=
ENST00000644772.1:c.933G>T	ENSP00000494321.1:p.Leu311=
ENST00000645076.1:c.215G>T
ENST00000645744.1:c.930G>T	ENSP00000494564.1:p.Leu310=
ENST00000645760.1:c.1106G>T
ENST00000645884.1:c.930G>T	ENSP00000495516.1:p.Leu310=
ENST00000646003.1:c.930G>T	ENSP00000495259.1:p.Leu310=
ENST00000646207.1:c.930G>T	ENSP00000495025.1:p.Leu310=
ENST00000646276.1:c.909G>T	ENSP00000496070.1:p.Leu303=
ENST00000646592.1:c.184G>T
ENST00000646737.1:c.*1027G>T	ENSP00000494874.1:n.*1027G>T
ENST00000646902.1:c.930G>T	ENSP00000494101.1:p.Leu310=
ENST00000646993.1:c.933G>T	ENSP00000493720.1:p.Leu311=
ENST00000647013.1:c.831G>T	ENSP00000496741.1:p.Leu277=
ENST00000647015.1:c.933G>T	ENSP00000495389.1:p.Leu311=
ENST00000647086.1:c.930G>T	ENSP00000493677.1:p.Leu310=
ENST00000647158.1:c.930G>T	ENSP00000495744.1:p.Leu310=
ENST00000302539.8:c.933G>T	ENSP00000303960.4:p.Leu311=
ENST00000389817.7:c.933G>T	ENSP00000374467.3:p.Leu311=
ENST00000527905.5:c.933G>T	ENSP00000431653.1:p.Leu311=
ENST00000532728.5:n.964G>T
NM_000352.4:c.933G>T	NP_000343.2:p.Leu311=
NM_001287174.1:c.933G>T	NP_001274103.1:p.Leu311=
XM_011520331.1:c.930G>T	XP_011518633.1:p.Leu310=
XM_011520332.1:c.933G>T	XP_011518634.1:p.Leu311=
XM_011520334.1:c.933G>T	XP_011518636.1:p.Leu311=
XR_930890.1:n.996G>T
XR_930891.1:n.996G>T
XR_930892.1:n.996G>T
XR_930893.1:n.996G>T
NM_001351295.1:c.933G>T	NP_001338224.1:p.Leu311=
NM_001351296.1:c.930G>T	NP_001338225.1:p.Leu310=
NM_001351297.1:c.930G>T	NP_001338226.1:p.Leu310=
NR_147094.1:n.999G>T
XM_017018197.2:c.933G>T	XP_016873686.1:p.Leu311=
XM_017018199.1:c.930G>T	XP_016873688.1:p.Leu310=
XM_017018201.2:c.933G>T	XP_016873690.1:p.Leu311=
XM_017018202.1:c.-585G>T	XP_016873691.1:n.-585G>T
XM_024448668.1:c.-805G>T	XP_024304436.1:n.-805G>T
XR_001747945.2:n.1005G>T
XR_001747946.2:n.1005G>T
XR_002957189.1:n.1005G>T
NM_000352.6:c.933G>T MANE Select	NP_000343.2:p.Leu311=
NM_001287174.2:c.933G>T	NP_001274103.1:p.Leu311=
NM_001351295.2:c.933G>T	NP_001338224.1:p.Leu311=
NM_001351296.2:c.930G>T	NP_001338225.1:p.Leu310=
NM_001351297.2:c.930G>T	NP_001338226.1:p.Leu310=
NR_147094.2:n.999G>T
NM_001287174.3:c.933G>T	NP_001274103.1:p.Leu311=