Canonical Allele Identifier: CA1723621242
Gene: ABCB1 HGNC NCBI

Linked Data

dbSNP Id: rs1385038381
gnomAD v4: 7-87503858-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87503858T>C , CM000669.2:g.87503858T>C GRCh38
NC_000007.13:g.87133174T>C , CM000669.1:g.87133174T>C GRCh37
NC_000007.12:g.86971110T>C NCBI36
NG_011513.1:g.214391A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000622132.5:c.*385A>G MANE Select ENSP00000478255.1:n.*385A>G
ENST00000622132.4:c.*385A>G ENSP00000478255.1:n.*385A>G
NM_001348946.2:c.*385A>G MANE Select NP_001335875.1:n.*385A>G
NM_000927.5:c.*385A>G NP_000918.2:n.*385A>G
NM_001348944.2:c.*385A>G NP_001335873.1:n.*385A>G
NM_001348945.2:c.*385A>G NP_001335874.1:n.*385A>G
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