Canonical Allele Identifier: CA349128051

Gene: ABCB11

Linked Data

• dbSNP Id: rs1332864334
• gnomAD v2: 2-169801462-T-A
• gnomAD v3: 2-168944952-T-A
• gnomAD v4: 2-168944952-T-A
• MyVariant Identifiers: chr2:g.169801462T>A (hg19) ; chr2:g.168944952T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168944952T>A , CM000664.2:g.168944952T>A	GRCh38
NC_000002.11:g.169801462T>A , CM000664.1:g.169801462T>A	GRCh37
NC_000002.10:g.169509708T>A	NCBI36
NG_007374.1:g.91372A>T
NG_007374.2:g.91445A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649448.1:c.670A>T	ENSP00000497165.1:p.Ile224Phe
ENST00000650372.1:c.2353A>T MANE Select	ENSP00000497931.1:p.Ile785Phe
ENST00000263817.6:c.2353A>T	ENSP00000263817.6:p.Ile785Phe
ENST00000439188.1:c.1042A>T	ENSP00000416058.1:n.1042A>T
NM_003742.2:c.2353A>T	NP_003733.2:p.Ile785Phe
XM_006712817.2:c.2395A>T	XP_006712880.1:p.Ile799Phe
XM_011512077.1:c.2455A>T	XP_011510379.1:p.Ile819Phe
XM_011512078.1:c.2455A>T	XP_011510380.1:p.Ile819Phe
XM_011512079.1:c.2455A>T	XP_011510381.1:p.Ile819Phe
XM_011512080.1:c.2455A>T	XP_011510382.1:p.Ile819Phe
XM_011512081.1:c.679A>T	XP_011510383.1:p.Ile227Phe
NM_003742.4:c.2353A>T MANE Select	NP_003733.2:p.Ile785Phe
XM_006712817.3:c.2395A>T	XP_006712880.1:p.Ile799Phe
XM_011512077.2:c.2455A>T	XP_011510379.1:p.Ile819Phe
XM_011512078.2:c.2455A>T	XP_011510380.1:p.Ile819Phe
XM_011512080.2:c.2455A>T	XP_011510382.1:p.Ile819Phe
XM_011512081.2:c.679A>T	XP_011510383.1:p.Ile227Phe
XM_017005165.1:c.2455A>T	XP_016860654.1:p.Ile819Phe
XM_017005166.1:c.1684A>T	XP_016860655.1:p.Ile562Phe
XM_017005167.1:c.1138A>T	XP_016860656.1:p.Ile380Phe