Canonical Allele Identifier: CA112131649

Gene: CYP4V2

Linked Data

• dbSNP Id: rs745326082
• gnomAD v3: 4-186205238-A-C
• gnomAD v4: 4-186205238-A-C
• MyVariant Identifiers: chr4:g.187126392A>C (hg19) ; chr4:g.186205238A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186205238A>C , CM000666.2:g.186205238A>C	GRCh38
NC_000004.11:g.187126392A>C , CM000666.1:g.187126392A>C	GRCh37
NC_000004.10:g.187363386A>C	NCBI36
NG_007965.1:g.18719A>C
NG_012095.2:g.1260A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000378802.5:c.1026A>C MANE Select	ENSP00000368079.4:p.Leu342Phe
ENST00000378802.4:c.1026A>C	ENSP00000368079.4:p.Leu342Phe
ENST00000502665.1:n.261A>C
ENST00000507209.5:n.5724A>C
ENST00000513354.5:n.116A>C
NM_207352.3:c.1026A>C	NP_997235.3:p.Leu342Phe
XM_005262935.2:c.1026A>C	XP_005262992.1:p.Leu342Phe
XM_006714184.2:c.630A>C	XP_006714247.1:p.Leu210Phe
XM_005262935.4:c.1026A>C	XP_005262992.1:p.Leu342Phe
XM_017008037.1:c.630A>C	XP_016863526.1:p.Leu210Phe
NM_207352.4:c.1026A>C MANE Select	NP_997235.3:p.Leu342Phe