Canonical Allele Identifier: CA358949374

Gene: CYP4V2

Linked Data

• gnomAD v4: 4-186205256-C-A
• MyVariant Identifiers: chr4:g.187126410C>A (hg19) ; chr4:g.186205256C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186205256C>A , CM000666.2:g.186205256C>A	GRCh38
NC_000004.11:g.187126410C>A , CM000666.1:g.187126410C>A	GRCh37
NC_000004.10:g.187363404C>A	NCBI36
NG_007965.1:g.18737C>A
NG_012095.2:g.1278C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.1044C>A MANE Select	ENSP00000368079.4:p.Asn348Lys
ENST00000378802.4:c.1044C>A	ENSP00000368079.4:p.Asn348Lys
ENST00000502665.1:n.279C>A
ENST00000507209.5:n.5742C>A
ENST00000513354.5:n.134C>A
NM_207352.3:c.1044C>A	NP_997235.3:p.Asn348Lys
XM_005262935.2:c.1044C>A	XP_005262992.1:p.Asn348Lys
XM_006714184.2:c.648C>A	XP_006714247.1:p.Asn216Lys
XM_005262935.4:c.1044C>A	XP_005262992.1:p.Asn348Lys
XM_017008037.1:c.648C>A	XP_016863526.1:p.Asn216Lys
NM_207352.4:c.1044C>A MANE Select	NP_997235.3:p.Asn348Lys