Canonical Allele Identifier: CA429985459

Gene: ABCB11

Linked Data

• gnomAD v4: 2-168944926-T-C
• MyVariant Identifiers: chr2:g.169801436T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168944926T>C , CM000664.2:g.168944926T>C	GRCh38
NC_000002.11:g.169801436T>C , CM000664.1:g.169801436T>C	GRCh37
NC_000002.10:g.169509682T>C	NCBI36
NG_007374.1:g.91398A>G
NG_007374.2:g.91471A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649448.1:c.696A>G	ENSP00000497165.1:p.Ser232=
ENST00000650372.1:c.2379A>G MANE Select	ENSP00000497931.1:p.Ser793=
ENST00000263817.6:c.2379A>G	ENSP00000263817.6:p.Ser793=
ENST00000439188.1:c.1068A>G	ENSP00000416058.1:n.1068A>G
NM_003742.2:c.2379A>G	NP_003733.2:p.Ser793=
XM_006712817.2:c.2421A>G	XP_006712880.1:p.Ser807=
XM_011512077.1:c.2481A>G	XP_011510379.1:p.Ser827=
XM_011512078.1:c.2481A>G	XP_011510380.1:p.Ser827=
XM_011512079.1:c.2481A>G	XP_011510381.1:p.Ser827=
XM_011512080.1:c.2481A>G	XP_011510382.1:p.Ser827=
XM_011512081.1:c.705A>G	XP_011510383.1:p.Ser235=
NM_003742.4:c.2379A>G MANE Select	NP_003733.2:p.Ser793=
XM_006712817.3:c.2421A>G	XP_006712880.1:p.Ser807=
XM_011512077.2:c.2481A>G	XP_011510379.1:p.Ser827=
XM_011512078.2:c.2481A>G	XP_011510380.1:p.Ser827=
XM_011512080.2:c.2481A>G	XP_011510382.1:p.Ser827=
XM_011512081.2:c.705A>G	XP_011510383.1:p.Ser235=
XM_017005165.1:c.2481A>G	XP_016860654.1:p.Ser827=
XM_017005166.1:c.1710A>G	XP_016860655.1:p.Ser570=
XM_017005167.1:c.1164A>G	XP_016860656.1:p.Ser388=