Canonical Allele Identifier: CA358949333

Gene: CYP4V2

Linked Data

• MyVariant Identifiers: chr4:g.187126397T>C (hg19) ; chr4:g.186205243T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186205243T>C , CM000666.2:g.186205243T>C	GRCh38
NC_000004.11:g.187126397T>C , CM000666.1:g.187126397T>C	GRCh37
NC_000004.10:g.187363391T>C	NCBI36
NG_007965.1:g.18724T>C
NG_012095.2:g.1265T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000378802.5:c.1031T>C MANE Select	ENSP00000368079.4:p.Leu344Pro
ENST00000378802.4:c.1031T>C	ENSP00000368079.4:p.Leu344Pro
ENST00000502665.1:n.266T>C
ENST00000507209.5:n.5729T>C
ENST00000513354.5:n.121T>C
NM_207352.3:c.1031T>C	NP_997235.3:p.Leu344Pro
XM_005262935.2:c.1031T>C	XP_005262992.1:p.Leu344Pro
XM_006714184.2:c.635T>C	XP_006714247.1:p.Leu212Pro
XM_005262935.4:c.1031T>C	XP_005262992.1:p.Leu344Pro
XM_017008037.1:c.635T>C	XP_016863526.1:p.Leu212Pro
NM_207352.4:c.1031T>C MANE Select	NP_997235.3:p.Leu344Pro