Canonical Allele Identifier: CA349126159

Gene: ABCB11

Linked Data

• dbSNP Id: rs1452420308
• gnomAD v2: 2-169801149-G-C
• gnomAD v4: 2-168944639-G-C
• MyVariant Identifiers: chr2:g.169801149G>C (hg19) ; chr2:g.168944639G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168944639G>C , CM000664.2:g.168944639G>C	GRCh38
NC_000002.11:g.169801149G>C , CM000664.1:g.169801149G>C	GRCh37
NC_000002.10:g.169509395G>C	NCBI36
NG_007374.1:g.91685C>G
NG_007374.2:g.91758C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649448.1:c.893C>G	ENSP00000497165.1:p.Thr298Arg
ENST00000650372.1:c.2576C>G MANE Select	ENSP00000497931.1:p.Thr859Arg
ENST00000263817.6:c.2576C>G	ENSP00000263817.6:p.Thr859Arg
ENST00000439188.1:c.1265C>G	ENSP00000416058.1:n.1265C>G
NM_003742.2:c.2576C>G	NP_003733.2:p.Thr859Arg
XM_006712817.2:c.2618C>G	XP_006712880.1:p.Thr873Arg
XM_011512077.1:c.2678C>G	XP_011510379.1:p.Thr893Arg
XM_011512078.1:c.2678C>G	XP_011510380.1:p.Thr893Arg
XM_011512079.1:c.2678C>G	XP_011510381.1:p.Thr893Arg
XM_011512080.1:c.2678C>G	XP_011510382.1:p.Thr893Arg
XM_011512081.1:c.902C>G	XP_011510383.1:p.Thr301Arg
NM_003742.4:c.2576C>G MANE Select	NP_003733.2:p.Thr859Arg
XM_006712817.3:c.2618C>G	XP_006712880.1:p.Thr873Arg
XM_011512077.2:c.2678C>G	XP_011510379.1:p.Thr893Arg
XM_011512078.2:c.2678C>G	XP_011510380.1:p.Thr893Arg
XM_011512080.2:c.2678C>G	XP_011510382.1:p.Thr893Arg
XM_011512081.2:c.902C>G	XP_011510383.1:p.Thr301Arg
XM_017005165.1:c.2678C>G	XP_016860654.1:p.Thr893Arg
XM_017005166.1:c.1907C>G	XP_016860655.1:p.Thr636Arg
XM_017005167.1:c.1361C>G	XP_016860656.1:p.Thr454Arg