Canonical Allele Identifier: CA3162436

Gene: CYP4V2

Linked Data

• ClinVar Variation Id: 438149
• ClinVar RCV Id: RCV000504812 ; RCV001865638
• dbSNP Id: rs745413794
• ExAC: 4:187113174 T / G
• gnomAD v2: 4-187113174-T-G
• gnomAD v3: 4-186192020-T-G
• gnomAD v4: 4-186192020-T-G
• MyVariant Identifiers: chr4:g.187113174T>G (hg19) ; chr4:g.186192020T>G (hg38)
• PubMed: PMID:24480711 ; PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186192020T>G , CM000666.2:g.186192020T>G	GRCh38
NC_000004.11:g.187113174T>G , CM000666.1:g.187113174T>G	GRCh37
NC_000004.10:g.187350168T>G	NCBI36
NG_007965.1:g.5501T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.197T>G MANE Select	ENSP00000368079.4:p.Met66Arg
ENST00000378802.4:c.197T>G	ENSP00000368079.4:p.Met66Arg
NM_207352.3:c.197T>G	NP_997235.3:p.Met66Arg
XM_005262935.2:c.197T>G	XP_005262992.1:p.Met66Arg
XM_005262935.4:c.197T>G	XP_005262992.1:p.Met66Arg
XM_017008037.1:c.-114T>G	XP_016863526.1:n.-114T>G
NM_207352.4:c.197T>G MANE Select	NP_997235.3:p.Met66Arg