Canonical Allele Identifier: CA358950185

Gene: CYP4V2

Linked Data

• dbSNP Id: rs1579976544
• MyVariant Identifiers: chr4:g.187130079T>C (hg19) ; chr4:g.186208925T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186208925T>C , CM000666.2:g.186208925T>C	GRCh38
NC_000004.11:g.187130079T>C , CM000666.1:g.187130079T>C	GRCh37
NC_000004.10:g.187367073T>C	NCBI36
NG_007965.1:g.22406T>C
NG_012095.2:g.4947T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000378802.5:c.1151T>C MANE Select	ENSP00000368079.4:p.Val384Ala
ENST00000378802.4:c.1151T>C	ENSP00000368079.4:p.Val384Ala
ENST00000502665.1:n.386T>C
ENST00000507209.5:n.5849T>C
ENST00000513354.5:n.241T>C
NM_207352.3:c.1151T>C	NP_997235.3:p.Val384Ala
XM_005262935.2:c.1151T>C	XP_005262992.1:p.Val384Ala
XM_006714184.2:c.755T>C	XP_006714247.1:p.Val252Ala
XM_005262935.4:c.1151T>C	XP_005262992.1:p.Val384Ala
XM_017008037.1:c.755T>C	XP_016863526.1:p.Val252Ala
NM_207352.4:c.1151T>C MANE Select	NP_997235.3:p.Val384Ala