Canonical Allele Identifier: CA349126482

Gene: ABCB11

Linked Data

• MyVariant Identifiers: chr2:g.169801198C>T (hg19) ; chr2:g.168944688C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168944688C>T , CM000664.2:g.168944688C>T	GRCh38
NC_000002.11:g.169801198C>T , CM000664.1:g.169801198C>T	GRCh37
NC_000002.10:g.169509444C>T	NCBI36
NG_007374.1:g.91636G>A
NG_007374.2:g.91709G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649448.1:c.844G>A	ENSP00000497165.1:p.Asp282Asn
ENST00000650372.1:c.2527G>A MANE Select	ENSP00000497931.1:p.Asp843Asn
ENST00000263817.6:c.2527G>A	ENSP00000263817.6:p.Asp843Asn
ENST00000439188.1:c.1216G>A	ENSP00000416058.1:n.1216G>A
NM_003742.2:c.2527G>A	NP_003733.2:p.Asp843Asn
XM_006712817.2:c.2569G>A	XP_006712880.1:p.Asp857Asn
XM_011512077.1:c.2629G>A	XP_011510379.1:p.Asp877Asn
XM_011512078.1:c.2629G>A	XP_011510380.1:p.Asp877Asn
XM_011512079.1:c.2629G>A	XP_011510381.1:p.Asp877Asn
XM_011512080.1:c.2629G>A	XP_011510382.1:p.Asp877Asn
XM_011512081.1:c.853G>A	XP_011510383.1:p.Asp285Asn
NM_003742.4:c.2527G>A MANE Select	NP_003733.2:p.Asp843Asn
XM_006712817.3:c.2569G>A	XP_006712880.1:p.Asp857Asn
XM_011512077.2:c.2629G>A	XP_011510379.1:p.Asp877Asn
XM_011512078.2:c.2629G>A	XP_011510380.1:p.Asp877Asn
XM_011512080.2:c.2629G>A	XP_011510382.1:p.Asp877Asn
XM_011512081.2:c.853G>A	XP_011510383.1:p.Asp285Asn
XM_017005165.1:c.2629G>A	XP_016860654.1:p.Asp877Asn
XM_017005166.1:c.1858G>A	XP_016860655.1:p.Asp620Asn
XM_017005167.1:c.1312G>A	XP_016860656.1:p.Asp438Asn