Canonical Allele Identifier: CA3162778

Gene: CYP4V2

Linked Data

• ClinVar Variation Id: 902351
• ClinVar RCV Id: RCV001148840 ; RCV001148841
• dbSNP Id: rs143711287
• ExAC: 4:187130112 T / C
• gnomAD v2: 4-187130112-T-C
• gnomAD v3: 4-186208958-T-C
• gnomAD v4: 4-186208958-T-C
• MyVariant Identifiers: chr4:g.187130112T>C (hg19) ; chr4:g.186208958T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186208958T>C , CM000666.2:g.186208958T>C	GRCh38
NC_000004.11:g.187130112T>C , CM000666.1:g.187130112T>C	GRCh37
NC_000004.10:g.187367106T>C	NCBI36
NG_007965.1:g.22439T>C
NG_012095.2:g.4980T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000378802.5:c.1184T>C MANE Select	ENSP00000368079.4:p.Val395Ala
ENST00000378802.4:c.1184T>C	ENSP00000368079.4:p.Val395Ala
ENST00000502665.1:n.419T>C
ENST00000507209.5:n.5882T>C
ENST00000513354.5:n.274T>C
NM_207352.3:c.1184T>C	NP_997235.3:p.Val395Ala
XM_005262935.2:c.1184T>C	XP_005262992.1:p.Val395Ala
XM_006714184.2:c.788T>C	XP_006714247.1:p.Val263Ala
XM_005262935.4:c.1184T>C	XP_005262992.1:p.Val395Ala
XM_017008037.1:c.788T>C	XP_016863526.1:p.Val263Ala
NM_207352.4:c.1184T>C MANE Select	NP_997235.3:p.Val395Ala