Canonical Allele Identifier: CA429917512

Gene: ABCB11

Linked Data

• gnomAD v4: 2-168996638-A-G
• MyVariant Identifiers: chr2:g.169853148A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168996638A>G , CM000664.2:g.168996638A>G	GRCh38
NC_000002.11:g.169853148A>G , CM000664.1:g.169853148A>G	GRCh37
NC_000002.10:g.169561394A>G	NCBI36
NG_007374.1:g.39686T>C
NG_007374.2:g.39759T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650372.1:c.474T>C MANE Select	ENSP00000497931.1:p.Ile158=
ENST00000263817.6:c.474T>C	ENSP00000263817.6:p.Ile158=
NM_003742.2:c.474T>C	NP_003733.2:p.Ile158=
XM_006712817.2:c.516T>C	XP_006712880.1:p.Ile172=
XM_011512077.1:c.576T>C	XP_011510379.1:p.Ile192=
XM_011512078.1:c.576T>C	XP_011510380.1:p.Ile192=
XM_011512079.1:c.576T>C	XP_011510381.1:p.Ile192=
XM_011512080.1:c.576T>C	XP_011510382.1:p.Ile192=
NM_003742.4:c.474T>C MANE Select	NP_003733.2:p.Ile158=
XM_006712817.3:c.516T>C	XP_006712880.1:p.Ile172=
XM_011512077.2:c.576T>C	XP_011510379.1:p.Ile192=
XM_011512078.2:c.576T>C	XP_011510380.1:p.Ile192=
XM_011512080.2:c.576T>C	XP_011510382.1:p.Ile192=
XM_017005165.1:c.576T>C	XP_016860654.1:p.Ile192=