Canonical Allele Identifier: CA349132580

Gene: ABCB11

Linked Data

• gnomAD v4: 2-168996646-C-T
• MyVariant Identifiers: chr2:g.169853156C>T (hg19) ; chr2:g.168996646C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168996646C>T , CM000664.2:g.168996646C>T	GRCh38
NC_000002.11:g.169853156C>T , CM000664.1:g.169853156C>T	GRCh37
NC_000002.10:g.169561402C>T	NCBI36
NG_007374.1:g.39678G>A
NG_007374.2:g.39751G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650372.1:c.466G>A MANE Select	ENSP00000497931.1:p.Gly156Arg
ENST00000263817.6:c.466G>A	ENSP00000263817.6:p.Gly156Arg
NM_003742.2:c.466G>A	NP_003733.2:p.Gly156Arg
XM_006712817.2:c.508G>A	XP_006712880.1:p.Gly170Arg
XM_011512077.1:c.568G>A	XP_011510379.1:p.Gly190Arg
XM_011512078.1:c.568G>A	XP_011510380.1:p.Gly190Arg
XM_011512079.1:c.568G>A	XP_011510381.1:p.Gly190Arg
XM_011512080.1:c.568G>A	XP_011510382.1:p.Gly190Arg
NM_003742.4:c.466G>A MANE Select	NP_003733.2:p.Gly156Arg
XM_006712817.3:c.508G>A	XP_006712880.1:p.Gly170Arg
XM_011512077.2:c.568G>A	XP_011510379.1:p.Gly190Arg
XM_011512078.2:c.568G>A	XP_011510380.1:p.Gly190Arg
XM_011512080.2:c.568G>A	XP_011510382.1:p.Gly190Arg
XM_017005165.1:c.568G>A	XP_016860654.1:p.Gly190Arg