Canonical Allele Identifier: CA429985387

Gene: ABCB11

Linked Data

• gnomAD v3: 2-168944758-G-C
• gnomAD v4: 2-168944758-G-C
• MyVariant Identifiers: chr2:g.169801268G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168944758G>C , CM000664.2:g.168944758G>C	GRCh38
NC_000002.11:g.169801268G>C , CM000664.1:g.169801268G>C	GRCh37
NC_000002.10:g.169509514G>C	NCBI36
NG_007374.1:g.91566C>G
NG_007374.2:g.91639C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649448.1:c.774C>G	ENSP00000497165.1:p.Ala258=
ENST00000650372.1:c.2457C>G MANE Select	ENSP00000497931.1:p.Ala819=
ENST00000263817.6:c.2457C>G	ENSP00000263817.6:p.Ala819=
ENST00000439188.1:c.1146C>G	ENSP00000416058.1:n.1146C>G
NM_003742.2:c.2457C>G	NP_003733.2:p.Ala819=
XM_006712817.2:c.2499C>G	XP_006712880.1:p.Ala833=
XM_011512077.1:c.2559C>G	XP_011510379.1:p.Ala853=
XM_011512078.1:c.2559C>G	XP_011510380.1:p.Ala853=
XM_011512079.1:c.2559C>G	XP_011510381.1:p.Ala853=
XM_011512080.1:c.2559C>G	XP_011510382.1:p.Ala853=
XM_011512081.1:c.783C>G	XP_011510383.1:p.Ala261=
NM_003742.4:c.2457C>G MANE Select	NP_003733.2:p.Ala819=
XM_006712817.3:c.2499C>G	XP_006712880.1:p.Ala833=
XM_011512077.2:c.2559C>G	XP_011510379.1:p.Ala853=
XM_011512078.2:c.2559C>G	XP_011510380.1:p.Ala853=
XM_011512080.2:c.2559C>G	XP_011510382.1:p.Ala853=
XM_011512081.2:c.783C>G	XP_011510383.1:p.Ala261=
XM_017005165.1:c.2559C>G	XP_016860654.1:p.Ala853=
XM_017005166.1:c.1788C>G	XP_016860655.1:p.Ala596=
XM_017005167.1:c.1242C>G	XP_016860656.1:p.Ala414=