Canonical Allele Identifier: CA339954

Gene: CYP4V2

Linked Data

• ClinVar Variation Id: 2187
• ClinVar RCV Id: RCV000002271 ; RCV001238785
• dbSNP Id: rs119103282
• ExAC: 4:187113107 T / A
• gnomAD v2: 4-187113107-T-A
• gnomAD v3: 4-186191953-T-A
• gnomAD v4: 4-186191953-T-A
• MyVariant Identifiers: chr4:g.187113107T>A (hg19) ; chr4:g.186191953T>A (hg38)
• PubMed: PMID:15042513 ; PMID:22497028

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186191953T>A , CM000666.2:g.186191953T>A	GRCh38
NC_000004.11:g.187113107T>A , CM000666.1:g.187113107T>A	GRCh37
NC_000004.10:g.187350101T>A	NCBI36
NG_007965.1:g.5434T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000378802.5:c.130T>A MANE Select	ENSP00000368079.4:p.Trp44Arg
ENST00000378802.4:c.130T>A	ENSP00000368079.4:p.Trp44Arg
NM_207352.3:c.130T>A	NP_997235.3:p.Trp44Arg
XM_005262935.2:c.130T>A	XP_005262992.1:p.Trp44Arg
XM_005262935.4:c.130T>A	XP_005262992.1:p.Trp44Arg
XM_017008037.1:c.-181T>A	XP_016863526.1:n.-181T>A
NM_207352.4:c.130T>A MANE Select	NP_997235.3:p.Trp44Arg