Canonical Allele Identifier: CA349126136

Gene: ABCB11

Linked Data

• MyVariant Identifiers: chr2:g.169801144G>C (hg19) ; chr2:g.168944634G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168944634G>C , CM000664.2:g.168944634G>C	GRCh38
NC_000002.11:g.169801144G>C , CM000664.1:g.169801144G>C	GRCh37
NC_000002.10:g.169509390G>C	NCBI36
NG_007374.1:g.91690C>G
NG_007374.2:g.91763C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000649448.1:c.898C>G	ENSP00000497165.1:p.Leu300Val
ENST00000650372.1:c.2581C>G MANE Select	ENSP00000497931.1:p.Leu861Val
ENST00000263817.6:c.2581C>G	ENSP00000263817.6:p.Leu861Val
ENST00000439188.1:c.1270C>G	ENSP00000416058.1:n.1270C>G
NM_003742.2:c.2581C>G	NP_003733.2:p.Leu861Val
XM_006712817.2:c.2623C>G	XP_006712880.1:p.Leu875Val
XM_011512077.1:c.2683C>G	XP_011510379.1:p.Leu895Val
XM_011512078.1:c.2683C>G	XP_011510380.1:p.Leu895Val
XM_011512079.1:c.2683C>G	XP_011510381.1:p.Leu895Val
XM_011512080.1:c.2683C>G	XP_011510382.1:p.Leu895Val
XM_011512081.1:c.907C>G	XP_011510383.1:p.Leu303Val
NM_003742.4:c.2581C>G MANE Select	NP_003733.2:p.Leu861Val
XM_006712817.3:c.2623C>G	XP_006712880.1:p.Leu875Val
XM_011512077.2:c.2683C>G	XP_011510379.1:p.Leu895Val
XM_011512078.2:c.2683C>G	XP_011510380.1:p.Leu895Val
XM_011512080.2:c.2683C>G	XP_011510382.1:p.Leu895Val
XM_011512081.2:c.907C>G	XP_011510383.1:p.Leu303Val
XM_017005165.1:c.2683C>G	XP_016860654.1:p.Leu895Val
XM_017005166.1:c.1912C>G	XP_016860655.1:p.Leu638Val
XM_017005167.1:c.1366C>G	XP_016860656.1:p.Leu456Val