Canonical Allele Identifier: CA4327889

Gene: ABCB1

Linked Data

• ClinVar Variation Id: 2283163
• ClinVar RCV Id: RCV004138250
• dbSNP Id: rs756391728
• ExAC: 7:87145916 T / G
• gnomAD v2: 7-87145916-T-G
• gnomAD v4: 7-87516600-T-G
• MyVariant Identifiers: chr7:g.87145916T>G (hg19) ; chr7:g.87516600T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87516600T>G , CM000669.2:g.87516600T>G	GRCh38
NC_000007.13:g.87145916T>G , CM000669.1:g.87145916T>G	GRCh37
NC_000007.12:g.86983852T>G	NCBI36
NG_011513.1:g.201649A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.2993A>C	ENSP00000265724.3:p.Tyr998Ser
ENST00000622132.5:c.2993A>C MANE Select	ENSP00000478255.1:p.Tyr998Ser
ENST00000265724.7:c.2993A>C	ENSP00000265724.3:p.Tyr998Ser
ENST00000475929.5:n.149A>C
ENST00000483831.1:n.551A>C
ENST00000488737.6:n.635A>C
ENST00000496821.5:n.621A>C
ENST00000543898.5:c.2801A>C	ENSP00000444095.1:p.Tyr934Ser
ENST00000622132.4:c.2993A>C	ENSP00000478255.1:p.Tyr998Ser
NM_000927.4:c.2993A>C	NP_000918.2:p.Tyr998Ser
NM_001348944.1:c.2993A>C	NP_001335873.1:p.Tyr998Ser
NM_001348945.1:c.3203A>C	NP_001335874.1:p.Tyr1068Ser
NM_001348946.1:c.2993A>C	NP_001335875.1:p.Tyr998Ser
NM_001348946.2:c.2993A>C MANE Select	NP_001335875.1:p.Tyr998Ser
NM_000927.5:c.2993A>C	NP_000918.2:p.Tyr998Ser
NM_001348944.2:c.2993A>C	NP_001335873.1:p.Tyr998Ser
NM_001348945.2:c.3203A>C	NP_001335874.1:p.Tyr1068Ser