Canonical Allele Identifier: CA368046800

Gene: ABCB1

Linked Data

• dbSNP Id: rs1239674801
• gnomAD v2: 7-87145878-T-A
• gnomAD v4: 7-87516562-T-A
• MyVariant Identifiers: chr7:g.87145878T>A (hg19) ; chr7:g.87516562T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87516562T>A , CM000669.2:g.87516562T>A	GRCh38
NC_000007.13:g.87145878T>A , CM000669.1:g.87145878T>A	GRCh37
NC_000007.12:g.86983814T>A	NCBI36
NG_011513.1:g.201687A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.3031A>T	ENSP00000265724.3:p.Ile1011Phe
ENST00000622132.5:c.3031A>T MANE Select	ENSP00000478255.1:p.Ile1011Phe
ENST00000265724.7:c.3031A>T	ENSP00000265724.3:p.Ile1011Phe
ENST00000475929.5:n.187A>T
ENST00000483831.1:n.589A>T
ENST00000488737.6:n.673A>T
ENST00000496821.5:n.659A>T
ENST00000543898.5:c.2839A>T	ENSP00000444095.1:p.Ile947Phe
ENST00000622132.4:c.3031A>T	ENSP00000478255.1:p.Ile1011Phe
NM_000927.4:c.3031A>T	NP_000918.2:p.Ile1011Phe
NM_001348944.1:c.3031A>T	NP_001335873.1:p.Ile1011Phe
NM_001348945.1:c.3241A>T	NP_001335874.1:p.Ile1081Phe
NM_001348946.1:c.3031A>T	NP_001335875.1:p.Ile1011Phe
NM_001348946.2:c.3031A>T MANE Select	NP_001335875.1:p.Ile1011Phe
NM_000927.5:c.3031A>T	NP_000918.2:p.Ile1011Phe
NM_001348944.2:c.3031A>T	NP_001335873.1:p.Ile1011Phe
NM_001348945.2:c.3241A>T	NP_001335874.1:p.Ile1081Phe