Canonical Allele Identifier: CA4328377

Gene: ABCB1

Linked Data

• dbSNP Id: rs144933300
• ExAC: 7:87179815 T / A
• gnomAD v2: 7-87179815-T-A
• gnomAD v3: 7-87550499-T-A
• gnomAD v4: 7-87550499-T-A
• MyVariant Identifiers: chr7:g.87179815T>A (hg19) ; chr7:g.87550499T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87550499T>A , CM000669.2:g.87550499T>A	GRCh38
NC_000007.13:g.87179815T>A , CM000669.1:g.87179815T>A	GRCh37
NC_000007.12:g.87017751T>A	NCBI36
NG_011513.1:g.167750A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000265724.8:c.1193A>T	ENSP00000265724.3:p.His398Leu
ENST00000622132.5:c.1193A>T MANE Select	ENSP00000478255.1:p.His398Leu
ENST00000265724.7:c.1193A>T	ENSP00000265724.3:p.His398Leu
ENST00000543898.5:c.1001A>T	ENSP00000444095.1:p.His334Leu
ENST00000622132.4:c.1193A>T	ENSP00000478255.1:p.His398Leu
NM_000927.4:c.1193A>T	NP_000918.2:p.His398Leu
NM_001348944.1:c.1193A>T	NP_001335873.1:p.His398Leu
NM_001348945.1:c.1403A>T	NP_001335874.1:p.His468Leu
NM_001348946.1:c.1193A>T	NP_001335875.1:p.His398Leu
NM_001348946.2:c.1193A>T MANE Select	NP_001335875.1:p.His398Leu
NM_000927.5:c.1193A>T	NP_000918.2:p.His398Leu
NM_001348944.2:c.1193A>T	NP_001335873.1:p.His398Leu
NM_001348945.2:c.1403A>T	NP_001335874.1:p.His468Leu