Canonical Allele Identifier: CA349127397

Gene: ABCB11

Linked Data

• MyVariant Identifiers: chr2:g.169801387G>A (hg19) ; chr2:g.168944877G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168944877G>A , CM000664.2:g.168944877G>A	GRCh38
NC_000002.11:g.169801387G>A , CM000664.1:g.169801387G>A	GRCh37
NC_000002.10:g.169509633G>A	NCBI36
NG_007374.1:g.91447C>T
NG_007374.2:g.91520C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649448.1:c.745C>T	ENSP00000497165.1:p.Leu249Phe
ENST00000650372.1:c.2428C>T MANE Select	ENSP00000497931.1:p.Leu810Phe
ENST00000263817.6:c.2428C>T	ENSP00000263817.6:p.Leu810Phe
ENST00000439188.1:c.1117C>T	ENSP00000416058.1:n.1117C>T
NM_003742.2:c.2428C>T	NP_003733.2:p.Leu810Phe
XM_006712817.2:c.2470C>T	XP_006712880.1:p.Leu824Phe
XM_011512077.1:c.2530C>T	XP_011510379.1:p.Leu844Phe
XM_011512078.1:c.2530C>T	XP_011510380.1:p.Leu844Phe
XM_011512079.1:c.2530C>T	XP_011510381.1:p.Leu844Phe
XM_011512080.1:c.2530C>T	XP_011510382.1:p.Leu844Phe
XM_011512081.1:c.754C>T	XP_011510383.1:p.Leu252Phe
NM_003742.4:c.2428C>T MANE Select	NP_003733.2:p.Leu810Phe
XM_006712817.3:c.2470C>T	XP_006712880.1:p.Leu824Phe
XM_011512077.2:c.2530C>T	XP_011510379.1:p.Leu844Phe
XM_011512078.2:c.2530C>T	XP_011510380.1:p.Leu844Phe
XM_011512080.2:c.2530C>T	XP_011510382.1:p.Leu844Phe
XM_011512081.2:c.754C>T	XP_011510383.1:p.Leu252Phe
XM_017005165.1:c.2530C>T	XP_016860654.1:p.Leu844Phe
XM_017005166.1:c.1759C>T	XP_016860655.1:p.Leu587Phe
XM_017005167.1:c.1213C>T	XP_016860656.1:p.Leu405Phe