Canonical Allele Identifier: CA1104128352
Gene: ABCB1 HGNC NCBI

Linked Data

dbSNP Id: rs1702635070
gnomAD v3: 7-87535656-T-C
gnomAD v4: 7-87535656-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87535656T>C , CM000669.2:g.87535656T>C GRCh38
NC_000007.13:g.87164972T>C , CM000669.1:g.87164972T>C GRCh37
NC_000007.12:g.87002908T>C NCBI36
NG_011513.1:g.182593A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.2481+802A>G ENSP00000265724.3:n.2481+802A>G
ENST00000622132.5:c.2481+802A>G MANE Select ENSP00000478255.1:n.2481+802A>G
ENST00000265724.7:c.2481+802A>G ENSP00000265724.3:n.2481+802A>G
ENST00000496821.5:n.109+802A>G
ENST00000543898.5:c.2289+802A>G ENSP00000444095.1:n.2289+802A>G
ENST00000622132.4:c.2481+802A>G ENSP00000478255.1:n.2481+802A>G
NM_000927.4:c.2481+802A>G NP_000918.2:n.2481+802A>G
NM_001348944.1:c.2481+802A>G NP_001335873.1:n.2481+802A>G
NM_001348945.1:c.2691+802A>G NP_001335874.1:n.2691+802A>G
NM_001348946.1:c.2481+802A>G NP_001335875.1:n.2481+802A>G
NM_001348946.2:c.2481+802A>G MANE Select NP_001335875.1:n.2481+802A>G
NM_000927.5:c.2481+802A>G NP_000918.2:n.2481+802A>G
NM_001348944.2:c.2481+802A>G NP_001335873.1:n.2481+802A>G
NM_001348945.2:c.2691+802A>G NP_001335874.1:n.2691+802A>G