Canonical Allele Identifier: CA456359316

Gene: ABCB1

Linked Data

• ClinVar Variation Id: 828676
• ClinVar RCV Id: RCV001028586
• dbSNP Id: rs1584871479
• gnomAD v3: 7-87550216-T-C
• gnomAD v4: 7-87550216-T-C
• MyVariant Identifiers: chr7:g.87179532T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87550216T>C , CM000669.2:g.87550216T>C	GRCh38
NC_000007.13:g.87179532T>C , CM000669.1:g.87179532T>C	GRCh37
NC_000007.12:g.87017468T>C	NCBI36
NG_011513.1:g.168033A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.1305A>G	ENSP00000265724.3:p.Thr435=
ENST00000622132.5:c.1305A>G MANE Select	ENSP00000478255.1:p.Thr435=
ENST00000265724.7:c.1305A>G	ENSP00000265724.3:p.Thr435=
ENST00000543898.5:c.1113A>G	ENSP00000444095.1:p.Thr371=
ENST00000622132.4:c.1305A>G	ENSP00000478255.1:p.Thr435=
NM_000927.4:c.1305A>G	NP_000918.2:p.Thr435=
NM_001348944.1:c.1305A>G	NP_001335873.1:p.Thr435=
NM_001348945.1:c.1515A>G	NP_001335874.1:p.Thr505=
NM_001348946.1:c.1305A>G	NP_001335875.1:p.Thr435=
NM_001348946.2:c.1305A>G MANE Select	NP_001335875.1:p.Thr435=
NM_000927.5:c.1305A>G	NP_000918.2:p.Thr435=
NM_001348944.2:c.1305A>G	NP_001335873.1:p.Thr435=
NM_001348945.2:c.1515A>G	NP_001335874.1:p.Thr505=