Canonical Allele Identifier: CA349127570

Gene: ABCB11

Linked Data

• ClinVar Variation Id: 893254
• ClinVar RCV Id: RCV001130868
• dbSNP Id: rs1692231118
• gnomAD v4: 2-168944892-T-C
• MyVariant Identifiers: chr2:g.169801402T>C (hg19) ; chr2:g.168944892T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168944892T>C , CM000664.2:g.168944892T>C	GRCh38
NC_000002.11:g.169801402T>C , CM000664.1:g.169801402T>C	GRCh37
NC_000002.10:g.169509648T>C	NCBI36
NG_007374.1:g.91432A>G
NG_007374.2:g.91505A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649448.1:c.730A>G	ENSP00000497165.1:p.Met244Val
ENST00000650372.1:c.2413A>G MANE Select	ENSP00000497931.1:p.Met805Val
ENST00000263817.6:c.2413A>G	ENSP00000263817.6:p.Met805Val
ENST00000439188.1:c.1102A>G	ENSP00000416058.1:n.1102A>G
NM_003742.2:c.2413A>G	NP_003733.2:p.Met805Val
XM_006712817.2:c.2455A>G	XP_006712880.1:p.Met819Val
XM_011512077.1:c.2515A>G	XP_011510379.1:p.Met839Val
XM_011512078.1:c.2515A>G	XP_011510380.1:p.Met839Val
XM_011512079.1:c.2515A>G	XP_011510381.1:p.Met839Val
XM_011512080.1:c.2515A>G	XP_011510382.1:p.Met839Val
XM_011512081.1:c.739A>G	XP_011510383.1:p.Met247Val
NM_003742.4:c.2413A>G MANE Select	NP_003733.2:p.Met805Val
XM_006712817.3:c.2455A>G	XP_006712880.1:p.Met819Val
XM_011512077.2:c.2515A>G	XP_011510379.1:p.Met839Val
XM_011512078.2:c.2515A>G	XP_011510380.1:p.Met839Val
XM_011512080.2:c.2515A>G	XP_011510382.1:p.Met839Val
XM_011512081.2:c.739A>G	XP_011510383.1:p.Met247Val
XM_017005165.1:c.2515A>G	XP_016860654.1:p.Met839Val
XM_017005166.1:c.1744A>G	XP_016860655.1:p.Met582Val
XM_017005167.1:c.1198A>G	XP_016860656.1:p.Met400Val