Canonical Allele Identifier: CA358947275

Gene: CYP4V2

Linked Data

• dbSNP Id: rs757683326
• gnomAD v4: 4-186196956-C-A
• MyVariant Identifiers: chr4:g.187118110C>A (hg19) ; chr4:g.186196956C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186196956C>A , CM000666.2:g.186196956C>A	GRCh38
NC_000004.11:g.187118110C>A , CM000666.1:g.187118110C>A	GRCh37
NC_000004.10:g.187355104C>A	NCBI36
NG_007965.1:g.10437C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000378802.5:c.430C>A MANE Select	ENSP00000368079.4:p.Arg144Ser
ENST00000378802.4:c.430C>A	ENSP00000368079.4:p.Arg144Ser
ENST00000507209.5:n.869C>A
NM_207352.3:c.430C>A	NP_997235.3:p.Arg144Ser
XM_005262935.2:c.430C>A	XP_005262992.1:p.Arg144Ser
XM_006714184.2:c.34C>A	XP_006714247.1:p.Arg12Ser
XM_005262935.4:c.430C>A	XP_005262992.1:p.Arg144Ser
XM_017008037.1:c.34C>A	XP_016863526.1:p.Arg12Ser
NM_207352.4:c.430C>A MANE Select	NP_997235.3:p.Arg144Ser