Canonical Allele Identifier: CA4327957
Gene: ABCB1 HGNC NCBI

Linked Data

dbSNP Id: rs148718120
gnomAD v2: 7-87150095-T-G
gnomAD v3: 7-87520779-T-G
gnomAD v4: 7-87520779-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87520779T>G , CM000669.2:g.87520779T>G GRCh38
NC_000007.13:g.87150095T>G , CM000669.1:g.87150095T>G GRCh37
NC_000007.12:g.86988031T>G NCBI36
NG_011513.1:g.197470A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.2783A>C ENSP00000265724.3:p.Tyr928Ser
ENST00000622132.5:c.2783A>C MANE Select ENSP00000478255.1:p.Tyr928Ser
ENST00000265724.7:c.2783A>C ENSP00000265724.3:p.Tyr928Ser
ENST00000483831.1:n.341A>C
ENST00000488737.6:n.425A>C
ENST00000496821.5:n.411A>C
ENST00000543898.5:c.2591A>C ENSP00000444095.1:p.Tyr864Ser
ENST00000622132.4:c.2783A>C ENSP00000478255.1:p.Tyr928Ser
NM_000927.4:c.2783A>C NP_000918.2:p.Tyr928Ser
NM_001348944.1:c.2783A>C NP_001335873.1:p.Tyr928Ser
NM_001348945.1:c.2993A>C NP_001335874.1:p.Tyr998Ser
NM_001348946.1:c.2783A>C NP_001335875.1:p.Tyr928Ser
NM_001348946.2:c.2783A>C MANE Select NP_001335875.1:p.Tyr928Ser
NM_000927.5:c.2783A>C NP_000918.2:p.Tyr928Ser
NM_001348944.2:c.2783A>C NP_001335873.1:p.Tyr928Ser
NM_001348945.2:c.2993A>C NP_001335874.1:p.Tyr998Ser