Canonical Allele Identifier: CA368047295
Gene: ABCB1 HGNC NCBI

Linked Data

gnomAD v4: 7-87516630-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87516630A>G , CM000669.2:g.87516630A>G GRCh38
NC_000007.13:g.87145946A>G , CM000669.1:g.87145946A>G GRCh37
NC_000007.12:g.86983882A>G NCBI36
NG_011513.1:g.201619T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.2963T>C ENSP00000265724.3:p.Val988Ala
ENST00000622132.5:c.2963T>C MANE Select ENSP00000478255.1:p.Val988Ala
ENST00000265724.7:c.2963T>C ENSP00000265724.3:p.Val988Ala
ENST00000475929.5:n.119T>C
ENST00000483831.1:n.521T>C
ENST00000488737.6:n.605T>C
ENST00000496821.5:n.591T>C
ENST00000543898.5:c.2771T>C ENSP00000444095.1:p.Val924Ala
ENST00000622132.4:c.2963T>C ENSP00000478255.1:p.Val988Ala
NM_000927.4:c.2963T>C NP_000918.2:p.Val988Ala
NM_001348944.1:c.2963T>C NP_001335873.1:p.Val988Ala
NM_001348945.1:c.3173T>C NP_001335874.1:p.Val1058Ala
NM_001348946.1:c.2963T>C NP_001335875.1:p.Val988Ala
NM_001348946.2:c.2963T>C MANE Select NP_001335875.1:p.Val988Ala
NM_000927.5:c.2963T>C NP_000918.2:p.Val988Ala
NM_001348944.2:c.2963T>C NP_001335873.1:p.Val988Ala
NM_001348945.2:c.3173T>C NP_001335874.1:p.Val1058Ala