Canonical Allele Identifier: CA358950213

Gene: CYP4V2

Linked Data

• MyVariant Identifiers: chr4:g.187130093C>T (hg19) ; chr4:g.186208939C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186208939C>T , CM000666.2:g.186208939C>T	GRCh38
NC_000004.11:g.187130093C>T , CM000666.1:g.187130093C>T	GRCh37
NC_000004.10:g.187367087C>T	NCBI36
NG_007965.1:g.22420C>T
NG_012095.2:g.4961C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000378802.5:c.1165C>T MANE Select	ENSP00000368079.4:p.Leu389Phe
ENST00000378802.4:c.1165C>T	ENSP00000368079.4:p.Leu389Phe
ENST00000502665.1:n.400C>T
ENST00000507209.5:n.5863C>T
ENST00000513354.5:n.255C>T
NM_207352.3:c.1165C>T	NP_997235.3:p.Leu389Phe
XM_005262935.2:c.1165C>T	XP_005262992.1:p.Leu389Phe
XM_006714184.2:c.769C>T	XP_006714247.1:p.Leu257Phe
XM_005262935.4:c.1165C>T	XP_005262992.1:p.Leu389Phe
XM_017008037.1:c.769C>T	XP_016863526.1:p.Leu257Phe
NM_207352.4:c.1165C>T MANE Select	NP_997235.3:p.Leu389Phe