Canonical Allele Identifier: CA3162782

Gene: CYP4V2

Linked Data

• ClinVar Variation Id: 1908107
• ClinVar RCV Id: RCV002596564
• dbSNP Id: rs751253268
• ExAC: 4:187130124 C / T
• gnomAD v2: 4-187130124-C-T
• gnomAD v3: 4-186208970-C-T
• gnomAD v4: 4-186208970-C-T
• MyVariant Identifiers: chr4:g.187130124C>T (hg19) ; chr4:g.186208970C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186208970C>T , CM000666.2:g.186208970C>T	GRCh38
NC_000004.11:g.187130124C>T , CM000666.1:g.187130124C>T	GRCh37
NC_000004.10:g.187367118C>T	NCBI36
NG_007965.1:g.22451C>T
NG_012095.2:g.4992C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000378802.5:c.1196C>T MANE Select	ENSP00000368079.4:p.Ala399Val
ENST00000378802.4:c.1196C>T	ENSP00000368079.4:p.Ala399Val
ENST00000502665.1:n.431C>T
ENST00000507209.5:n.5894C>T
ENST00000513354.5:n.286C>T
NM_207352.3:c.1196C>T	NP_997235.3:p.Ala399Val
XM_005262935.2:c.1196C>T	XP_005262992.1:p.Ala399Val
XM_006714184.2:c.800C>T	XP_006714247.1:p.Ala267Val
XM_005262935.4:c.1196C>T	XP_005262992.1:p.Ala399Val
XM_017008037.1:c.800C>T	XP_016863526.1:p.Ala267Val
NM_207352.4:c.1196C>T MANE Select	NP_997235.3:p.Ala399Val