Canonical Allele Identifier: CA349127692

Gene: ABCB11

Linked Data

• MyVariant Identifiers: chr2:g.169801422A>C (hg19) ; chr2:g.168944912A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168944912A>C , CM000664.2:g.168944912A>C	GRCh38
NC_000002.11:g.169801422A>C , CM000664.1:g.169801422A>C	GRCh37
NC_000002.10:g.169509668A>C	NCBI36
NG_007374.1:g.91412T>G
NG_007374.2:g.91485T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649448.1:c.710T>G	ENSP00000497165.1:p.Val237Gly
ENST00000650372.1:c.2393T>G MANE Select	ENSP00000497931.1:p.Val798Gly
ENST00000263817.6:c.2393T>G	ENSP00000263817.6:p.Val798Gly
ENST00000439188.1:c.1082T>G	ENSP00000416058.1:n.1082T>G
NM_003742.2:c.2393T>G	NP_003733.2:p.Val798Gly
XM_006712817.2:c.2435T>G	XP_006712880.1:p.Val812Gly
XM_011512077.1:c.2495T>G	XP_011510379.1:p.Val832Gly
XM_011512078.1:c.2495T>G	XP_011510380.1:p.Val832Gly
XM_011512079.1:c.2495T>G	XP_011510381.1:p.Val832Gly
XM_011512080.1:c.2495T>G	XP_011510382.1:p.Val832Gly
XM_011512081.1:c.719T>G	XP_011510383.1:p.Val240Gly
NM_003742.4:c.2393T>G MANE Select	NP_003733.2:p.Val798Gly
XM_006712817.3:c.2435T>G	XP_006712880.1:p.Val812Gly
XM_011512077.2:c.2495T>G	XP_011510379.1:p.Val832Gly
XM_011512078.2:c.2495T>G	XP_011510380.1:p.Val832Gly
XM_011512080.2:c.2495T>G	XP_011510382.1:p.Val832Gly
XM_011512081.2:c.719T>G	XP_011510383.1:p.Val240Gly
XM_017005165.1:c.2495T>G	XP_016860654.1:p.Val832Gly
XM_017005166.1:c.1724T>G	XP_016860655.1:p.Val575Gly
XM_017005167.1:c.1178T>G	XP_016860656.1:p.Val393Gly