Canonical Allele Identifier: CA349127647

Gene: ABCB11

Linked Data

• MyVariant Identifiers: chr2:g.169801417G>C (hg19) ; chr2:g.168944907G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168944907G>C , CM000664.2:g.168944907G>C	GRCh38
NC_000002.11:g.169801417G>C , CM000664.1:g.169801417G>C	GRCh37
NC_000002.10:g.169509663G>C	NCBI36
NG_007374.1:g.91417C>G
NG_007374.2:g.91490C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649448.1:c.715C>G	ENSP00000497165.1:p.Leu239Val
ENST00000650372.1:c.2398C>G MANE Select	ENSP00000497931.1:p.Leu800Val
ENST00000263817.6:c.2398C>G	ENSP00000263817.6:p.Leu800Val
ENST00000439188.1:c.1087C>G	ENSP00000416058.1:n.1087C>G
NM_003742.2:c.2398C>G	NP_003733.2:p.Leu800Val
XM_006712817.2:c.2440C>G	XP_006712880.1:p.Leu814Val
XM_011512077.1:c.2500C>G	XP_011510379.1:p.Leu834Val
XM_011512078.1:c.2500C>G	XP_011510380.1:p.Leu834Val
XM_011512079.1:c.2500C>G	XP_011510381.1:p.Leu834Val
XM_011512080.1:c.2500C>G	XP_011510382.1:p.Leu834Val
XM_011512081.1:c.724C>G	XP_011510383.1:p.Leu242Val
NM_003742.4:c.2398C>G MANE Select	NP_003733.2:p.Leu800Val
XM_006712817.3:c.2440C>G	XP_006712880.1:p.Leu814Val
XM_011512077.2:c.2500C>G	XP_011510379.1:p.Leu834Val
XM_011512078.2:c.2500C>G	XP_011510380.1:p.Leu834Val
XM_011512080.2:c.2500C>G	XP_011510382.1:p.Leu834Val
XM_011512081.2:c.724C>G	XP_011510383.1:p.Leu242Val
XM_017005165.1:c.2500C>G	XP_016860654.1:p.Leu834Val
XM_017005166.1:c.1729C>G	XP_016860655.1:p.Leu577Val
XM_017005167.1:c.1183C>G	XP_016860656.1:p.Leu395Val