Canonical Allele Identifier: CA4328382
Gene: ABCB1 HGNC NCBI

Linked Data

dbSNP Id: rs149196148
gnomAD v2: 7-87179845-A-C
gnomAD v3: 7-87550529-A-C
gnomAD v4: 7-87550529-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87550529A>C , CM000669.2:g.87550529A>C GRCh38
NC_000007.13:g.87179845A>C , CM000669.1:g.87179845A>C GRCh37
NC_000007.12:g.87017781A>C NCBI36
NG_011513.1:g.167720T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.1163T>G ENSP00000265724.3:p.Ile388Ser
ENST00000622132.5:c.1163T>G MANE Select ENSP00000478255.1:p.Ile388Ser
ENST00000265724.7:c.1163T>G ENSP00000265724.3:p.Ile388Ser
ENST00000543898.5:c.971T>G ENSP00000444095.1:p.Ile324Ser
ENST00000622132.4:c.1163T>G ENSP00000478255.1:p.Ile388Ser
NM_000927.4:c.1163T>G NP_000918.2:p.Ile388Ser
NM_001348944.1:c.1163T>G NP_001335873.1:p.Ile388Ser
NM_001348945.1:c.1373T>G NP_001335874.1:p.Ile458Ser
NM_001348946.1:c.1163T>G NP_001335875.1:p.Ile388Ser
NM_001348946.2:c.1163T>G MANE Select NP_001335875.1:p.Ile388Ser
NM_000927.5:c.1163T>G NP_000918.2:p.Ile388Ser
NM_001348944.2:c.1163T>G NP_001335873.1:p.Ile388Ser
NM_001348945.2:c.1373T>G NP_001335874.1:p.Ile458Ser