Canonical Allele Identifier: CA429985262

Gene: ABCB11

Linked Data

• gnomAD v4: 2-168944686-A-G
• MyVariant Identifiers: chr2:g.169801196A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168944686A>G , CM000664.2:g.168944686A>G	GRCh38
NC_000002.11:g.169801196A>G , CM000664.1:g.169801196A>G	GRCh37
NC_000002.10:g.169509442A>G	NCBI36
NG_007374.1:g.91638T>C
NG_007374.2:g.91711T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649448.1:c.846T>C	ENSP00000497165.1:p.Asp282=
ENST00000650372.1:c.2529T>C MANE Select	ENSP00000497931.1:p.Asp843=
ENST00000263817.6:c.2529T>C	ENSP00000263817.6:p.Asp843=
ENST00000439188.1:c.1218T>C	ENSP00000416058.1:n.1218T>C
NM_003742.2:c.2529T>C	NP_003733.2:p.Asp843=
XM_006712817.2:c.2571T>C	XP_006712880.1:p.Asp857=
XM_011512077.1:c.2631T>C	XP_011510379.1:p.Asp877=
XM_011512078.1:c.2631T>C	XP_011510380.1:p.Asp877=
XM_011512079.1:c.2631T>C	XP_011510381.1:p.Asp877=
XM_011512080.1:c.2631T>C	XP_011510382.1:p.Asp877=
XM_011512081.1:c.855T>C	XP_011510383.1:p.Asp285=
NM_003742.4:c.2529T>C MANE Select	NP_003733.2:p.Asp843=
XM_006712817.3:c.2571T>C	XP_006712880.1:p.Asp857=
XM_011512077.2:c.2631T>C	XP_011510379.1:p.Asp877=
XM_011512078.2:c.2631T>C	XP_011510380.1:p.Asp877=
XM_011512080.2:c.2631T>C	XP_011510382.1:p.Asp877=
XM_011512081.2:c.855T>C	XP_011510383.1:p.Asp285=
XM_017005165.1:c.2631T>C	XP_016860654.1:p.Asp877=
XM_017005166.1:c.1860T>C	XP_016860655.1:p.Asp620=
XM_017005167.1:c.1314T>C	XP_016860656.1:p.Asp438=