Canonical Allele Identifier: CA4327859

Gene: ABCB1

Linked Data

• dbSNP Id: rs760397990
• ExAC: 7:87144782 A / G
• gnomAD v2: 7-87144782-A-G
• gnomAD v3: 7-87515466-A-G
• gnomAD v4: 7-87515466-A-G
• MyVariant Identifiers: chr7:g.87144782A>G (hg19) ; chr7:g.87515466A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87515466A>G , CM000669.2:g.87515466A>G	GRCh38
NC_000007.13:g.87144782A>G , CM000669.1:g.87144782A>G	GRCh37
NC_000007.12:g.86982718A>G	NCBI36
NG_011513.1:g.202783T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.3085-38T>C	ENSP00000265724.3:n.3085-38T>C
ENST00000622132.5:c.3085-38T>C MANE Select	ENSP00000478255.1:n.3085-38T>C
ENST00000265724.7:c.3085-38T>C	ENSP00000265724.3:n.3085-38T>C
ENST00000475929.5:n.241-38T>C
ENST00000488737.6:n.727-38T>C
ENST00000496821.5:n.713-38T>C
ENST00000543898.5:c.2893-38T>C	ENSP00000444095.1:n.2893-38T>C
ENST00000622132.4:c.3085-38T>C	ENSP00000478255.1:n.3085-38T>C
NM_000927.4:c.3085-38T>C	NP_000918.2:n.3085-38T>C
NM_001348944.1:c.3085-38T>C	NP_001335873.1:n.3085-38T>C
NM_001348945.1:c.3295-38T>C	NP_001335874.1:n.3295-38T>C
NM_001348946.1:c.3085-38T>C	NP_001335875.1:n.3085-38T>C
NM_001348946.2:c.3085-38T>C MANE Select	NP_001335875.1:n.3085-38T>C
NM_000927.5:c.3085-38T>C	NP_000918.2:n.3085-38T>C
NM_001348944.2:c.3085-38T>C	NP_001335873.1:n.3085-38T>C
NM_001348945.2:c.3295-38T>C	NP_001335874.1:n.3295-38T>C