Canonical Allele Identifier: CA253880
Gene: ABCB11 HGNC NCBI

Linked Data

ClinVar Variation Id: 6595
ClinVar RCV Id: RCV000006974 RCV001851714
dbSNP Id: rs121908935
MyVariant Identifiers: chr2:g.169833100C>G (hg19) chr2:g.168976590C>G (hg38)
PubMed: PMID:16039748
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.168976590C>G , CM000664.2:g.168976590C>G GRCh38
NC_000002.11:g.169833100C>G , CM000664.1:g.169833100C>G GRCh37
NC_000002.10:g.169541346C>G NCBI36
NG_007374.1:g.59734G>C
NG_007374.2:g.59807G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000650372.1:c.1295G>C MANE Select ENSP00000497931.1:p.Arg432Thr
ENST00000263817.6:c.1295G>C ENSP00000263817.6:p.Arg432Thr
NM_003742.2:c.1295G>C NP_003733.2:p.Arg432Thr
XM_006712817.2:c.1337G>C XP_006712880.1:p.Arg446Thr
XM_011512077.1:c.1397G>C XP_011510379.1:p.Arg466Thr
XM_011512078.1:c.1397G>C XP_011510380.1:p.Arg466Thr
XM_011512079.1:c.1397G>C XP_011510381.1:p.Arg466Thr
XM_011512080.1:c.1397G>C XP_011510382.1:p.Arg466Thr
NM_003742.4:c.1295G>C MANE Select NP_003733.2:p.Arg432Thr
XM_006712817.3:c.1337G>C XP_006712880.1:p.Arg446Thr
XM_011512077.2:c.1397G>C XP_011510379.1:p.Arg466Thr
XM_011512078.2:c.1397G>C XP_011510380.1:p.Arg466Thr
XM_011512080.2:c.1397G>C XP_011510382.1:p.Arg466Thr
XM_017005165.1:c.1397G>C XP_016860654.1:p.Arg466Thr
XM_017005166.1:c.626G>C XP_016860655.1:p.Arg209Thr
XM_017005167.1:c.80G>C XP_016860656.1:p.Arg27Thr
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