Canonical Allele Identifier: CA358948069

Gene: CYP4V2

Linked Data

• dbSNP Id: rs1217124961
• gnomAD v2: 4-187120198-C-A
• gnomAD v4: 4-186199044-C-A
• MyVariant Identifiers: chr4:g.187120198C>A (hg19) ; chr4:g.186199044C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186199044C>A , CM000666.2:g.186199044C>A	GRCh38
NC_000004.11:g.187120198C>A , CM000666.1:g.187120198C>A	GRCh37
NC_000004.10:g.187357192C>A	NCBI36
NG_007965.1:g.12525C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.762C>A MANE Select	ENSP00000368079.4:p.His254Gln
ENST00000378802.4:c.762C>A	ENSP00000368079.4:p.His254Gln
ENST00000507209.5:n.1603C>A
NM_207352.3:c.762C>A	NP_997235.3:p.His254Gln
XM_005262935.2:c.762C>A	XP_005262992.1:p.His254Gln
XM_006714184.2:c.366C>A	XP_006714247.1:p.His122Gln
XM_005262935.4:c.762C>A	XP_005262992.1:p.His254Gln
XM_017008037.1:c.366C>A	XP_016863526.1:p.His122Gln
NM_207352.4:c.762C>A MANE Select	NP_997235.3:p.His254Gln