Canonical Allele Identifier: CA442882157

Gene: CYP4V2

Linked Data

• ClinVar Variation Id: 1585910
• ClinVar RCV Id: RCV002097875
• dbSNP Id: rs1304200174
• gnomAD v2: 4-187130125-C-G
• gnomAD v4: 4-186208971-C-G
• MyVariant Identifiers: chr4:g.187130125C>G (hg19) ; chr4:g.186208971C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186208971C>G , CM000666.2:g.186208971C>G	GRCh38
NC_000004.11:g.187130125C>G , CM000666.1:g.187130125C>G	GRCh37
NC_000004.10:g.187367119C>G	NCBI36
NG_007965.1:g.22452C>G
NG_012095.2:g.4993C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000378802.5:c.1197C>G MANE Select	ENSP00000368079.4:p.Ala399=
ENST00000378802.4:c.1197C>G	ENSP00000368079.4:p.Ala399=
ENST00000502665.1:n.432C>G
ENST00000507209.5:n.5895C>G
ENST00000513354.5:n.287C>G
NM_207352.3:c.1197C>G	NP_997235.3:p.Ala399=
XM_005262935.2:c.1197C>G	XP_005262992.1:p.Ala399=
XM_006714184.2:c.801C>G	XP_006714247.1:p.Ala267=
XM_005262935.4:c.1197C>G	XP_005262992.1:p.Ala399=
XM_017008037.1:c.801C>G	XP_016863526.1:p.Ala267=
NM_207352.4:c.1197C>G MANE Select	NP_997235.3:p.Ala399=