Canonical Allele Identifier: CA4327827

Gene: ABCB1

Linked Data

• dbSNP Id: rs753295978
• ExAC: 7:87144592 C / G
• gnomAD v2: 7-87144592-C-G
• gnomAD v4: 7-87515276-C-G
• MyVariant Identifiers: chr7:g.87144592C>G (hg19) ; chr7:g.87515276C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87515276C>G , CM000669.2:g.87515276C>G	GRCh38
NC_000007.13:g.87144592C>G , CM000669.1:g.87144592C>G	GRCh37
NC_000007.12:g.86982528C>G	NCBI36
NG_011513.1:g.202973G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.3237G>C	ENSP00000265724.3:p.Val1079=
ENST00000622132.5:c.3237G>C MANE Select	ENSP00000478255.1:p.Val1079=
ENST00000265724.7:c.3237G>C	ENSP00000265724.3:p.Val1079=
ENST00000475929.5:n.393G>C
ENST00000488737.6:n.879G>C
ENST00000496821.5:n.865G>C
ENST00000543898.5:c.3045G>C	ENSP00000444095.1:p.Val1015=
ENST00000622132.4:c.3237G>C	ENSP00000478255.1:p.Val1079=
NM_000927.4:c.3237G>C	NP_000918.2:p.Val1079=
NM_001348944.1:c.3237G>C	NP_001335873.1:p.Val1079=
NM_001348945.1:c.3447G>C	NP_001335874.1:p.Val1149=
NM_001348946.1:c.3237G>C	NP_001335875.1:p.Val1079=
NM_001348946.2:c.3237G>C MANE Select	NP_001335875.1:p.Val1079=
NM_000927.5:c.3237G>C	NP_000918.2:p.Val1079=
NM_001348944.2:c.3237G>C	NP_001335873.1:p.Val1079=
NM_001348945.2:c.3447G>C	NP_001335874.1:p.Val1149=