Canonical Allele Identifier: CA3162646

Gene: CYP4V2

Linked Data

• ClinVar Variation Id: 964135
• ClinVar RCV Id: RCV001238300 ; RCV003887945
• dbSNP Id: rs753561422
• ExAC: 4:187120216 C / G
• gnomAD v2: 4-187120216-C-G
• gnomAD v3: 4-186199062-C-G
• gnomAD v4: 4-186199062-C-G
• MyVariant Identifiers: chr4:g.187120216C>G (hg19) ; chr4:g.186199062C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186199062C>G , CM000666.2:g.186199062C>G	GRCh38
NC_000004.11:g.187120216C>G , CM000666.1:g.187120216C>G	GRCh37
NC_000004.10:g.187357210C>G	NCBI36
NG_007965.1:g.12543C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000378802.5:c.780C>G MANE Select	ENSP00000368079.4:p.Ile260Met
ENST00000378802.4:c.780C>G	ENSP00000368079.4:p.Ile260Met
ENST00000507209.5:n.1621C>G
NM_207352.3:c.780C>G	NP_997235.3:p.Ile260Met
XM_005262935.2:c.780C>G	XP_005262992.1:p.Ile260Met
XM_006714184.2:c.384C>G	XP_006714247.1:p.Ile128Met
XM_005262935.4:c.780C>G	XP_005262992.1:p.Ile260Met
XM_017008037.1:c.384C>G	XP_016863526.1:p.Ile128Met
NM_207352.4:c.780C>G MANE Select	NP_997235.3:p.Ile260Met