Canonical Allele Identifier: CA59880694

Gene: ABCB11

Linked Data

• dbSNP Id: rs952745163
• gnomAD v4: 2-168944607-C-T
• MyVariant Identifiers: chr2:g.169801117C>T (hg19) ; chr2:g.168944607C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168944607C>T , CM000664.2:g.168944607C>T	GRCh38
NC_000002.11:g.169801117C>T , CM000664.1:g.169801117C>T	GRCh37
NC_000002.10:g.169509363C>T	NCBI36
NG_007374.1:g.91717G>A
NG_007374.2:g.91790G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649448.1:c.925G>A	ENSP00000497165.1:p.Gly309Arg
ENST00000650372.1:c.2608G>A MANE Select	ENSP00000497931.1:p.Gly870Arg
ENST00000263817.6:c.2608G>A	ENSP00000263817.6:p.Gly870Arg
ENST00000439188.1:c.1297G>A	ENSP00000416058.1:n.1297G>A
NM_003742.2:c.2608G>A	NP_003733.2:p.Gly870Arg
XM_006712817.2:c.2650G>A	XP_006712880.1:p.Gly884Arg
XM_011512077.1:c.2710G>A	XP_011510379.1:p.Gly904Arg
XM_011512078.1:c.2710G>A	XP_011510380.1:p.Gly904Arg
XM_011512079.1:c.2710G>A	XP_011510381.1:p.Gly904Arg
XM_011512080.1:c.2710G>A	XP_011510382.1:p.Gly904Arg
XM_011512081.1:c.934G>A	XP_011510383.1:p.Gly312Arg
NM_003742.4:c.2608G>A MANE Select	NP_003733.2:p.Gly870Arg
XM_006712817.3:c.2650G>A	XP_006712880.1:p.Gly884Arg
XM_011512077.2:c.2710G>A	XP_011510379.1:p.Gly904Arg
XM_011512078.2:c.2710G>A	XP_011510380.1:p.Gly904Arg
XM_011512080.2:c.2710G>A	XP_011510382.1:p.Gly904Arg
XM_011512081.2:c.934G>A	XP_011510383.1:p.Gly312Arg
XM_017005165.1:c.2710G>A	XP_016860654.1:p.Gly904Arg
XM_017005166.1:c.1939G>A	XP_016860655.1:p.Gly647Arg
XM_017005167.1:c.1393G>A	XP_016860656.1:p.Gly465Arg