Canonical Allele Identifier: CA149664

Gene: CYP4V2

Linked Data

• ClinVar Variation Id: 39267
• ClinVar RCV Id: RCV000032544 ; RCV000082840 ; RCV000132719 ; RCV000278726 ; RCV003887878
• dbSNP Id: rs1055138
• ExAC: 4:187113041 C / G
• gnomAD v2: 4-187113041-C-G
• gnomAD v3: 4-186191887-C-G
• gnomAD v4: 4-186191887-C-G
• MyVariant Identifiers: chr4:g.187113041C>G (hg19) ; chr4:g.186191887C>G (hg38)
• PubMed: PMID:22497028

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186191887C>G , CM000666.2:g.186191887C>G	GRCh38
NC_000004.11:g.187113041C>G , CM000666.1:g.187113041C>G	GRCh37
NC_000004.10:g.187350035C>G	NCBI36
NG_007965.1:g.5368C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.64C>G MANE Select	ENSP00000368079.4:p.Leu22Val
ENST00000378802.4:c.64C>G	ENSP00000368079.4:p.Leu22Val
NM_207352.3:c.64C>G	NP_997235.3:p.Leu22Val
XM_005262935.2:c.64C>G	XP_005262992.1:p.Leu22Val
XM_005262935.4:c.64C>G	XP_005262992.1:p.Leu22Val
XM_017008037.1:c.-247C>G	XP_016863526.1:n.-247C>G
NM_207352.4:c.64C>G MANE Select	NP_997235.3:p.Leu22Val