Canonical Allele Identifier: CA4328380
Gene: ABCB1 HGNC NCBI

Linked Data

dbSNP Id: rs200199237
gnomAD v2: 7-87179830-T-G
gnomAD v4: 7-87550514-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87550514T>G , CM000669.2:g.87550514T>G GRCh38
NC_000007.13:g.87179830T>G , CM000669.1:g.87179830T>G GRCh37
NC_000007.12:g.87017766T>G NCBI36
NG_011513.1:g.167735A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.1178A>C ENSP00000265724.3:p.Glu393Ala
ENST00000622132.5:c.1178A>C MANE Select ENSP00000478255.1:p.Glu393Ala
ENST00000265724.7:c.1178A>C ENSP00000265724.3:p.Glu393Ala
ENST00000543898.5:c.986A>C ENSP00000444095.1:p.Glu329Ala
ENST00000622132.4:c.1178A>C ENSP00000478255.1:p.Glu393Ala
NM_000927.4:c.1178A>C NP_000918.2:p.Glu393Ala
NM_001348944.1:c.1178A>C NP_001335873.1:p.Glu393Ala
NM_001348945.1:c.1388A>C NP_001335874.1:p.Glu463Ala
NM_001348946.1:c.1178A>C NP_001335875.1:p.Glu393Ala
NM_001348946.2:c.1178A>C MANE Select NP_001335875.1:p.Glu393Ala
NM_000927.5:c.1178A>C NP_000918.2:p.Glu393Ala
NM_001348944.2:c.1178A>C NP_001335873.1:p.Glu393Ala
NM_001348945.2:c.1388A>C NP_001335874.1:p.Glu463Ala