Canonical Allele Identifier: CA232864

Gene: CYP4V2

Linked Data

• ClinVar Variation Id: 39264
• ClinVar RCV Id: RCV000032541 ; RCV000132718 ; RCV000260520 ; RCV001074793
• dbSNP Id: rs149684063
• ExAC: 4:187117196 A / G
• gnomAD v2: 4-187117196-A-G
• gnomAD v3: 4-186196042-A-G
• gnomAD v4: 4-186196042-A-G
• MyVariant Identifiers: chr4:g.187117196A>G (hg19) ; chr4:g.186196042A>G (hg38)
• PubMed: PMID:15042513 ; PMID:21565171 ; PMID:22497028

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186196042A>G , CM000666.2:g.186196042A>G	GRCh38
NC_000004.11:g.187117196A>G , CM000666.1:g.187117196A>G	GRCh37
NC_000004.10:g.187354190A>G	NCBI36
NG_007965.1:g.9523A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.367A>G MANE Select	ENSP00000368079.4:p.Met123Val
ENST00000378802.4:c.367A>G	ENSP00000368079.4:p.Met123Val
NM_207352.3:c.367A>G	NP_997235.3:p.Met123Val
XM_005262935.2:c.367A>G	XP_005262992.1:p.Met123Val
XM_006714184.2:c.18-898A>G	XP_006714247.1:n.18-898A>G
XM_005262935.4:c.367A>G	XP_005262992.1:p.Met123Val
XM_017008037.1:c.18-898A>G	XP_016863526.1:n.18-898A>G
NM_207352.4:c.367A>G MANE Select	NP_997235.3:p.Met123Val