Canonical Allele Identifier: CA3162747

Gene: CYP4V2

Linked Data

• dbSNP Id: rs375565784
• ExAC: 4:187129980 C / A
• gnomAD v2: 4-187129980-C-A
• gnomAD v4: 4-186208826-C-A
• MyVariant Identifiers: chr4:g.187129980C>A (hg19) ; chr4:g.186208826C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186208826C>A , CM000666.2:g.186208826C>A	GRCh38
NC_000004.11:g.187129980C>A , CM000666.1:g.187129980C>A	GRCh37
NC_000004.10:g.187366974C>A	NCBI36
NG_007965.1:g.22307C>A
NG_012095.2:g.4848C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.1091-39C>A MANE Select	ENSP00000368079.4:n.1091-39C>A
ENST00000378802.4:c.1091-39C>A	ENSP00000368079.4:n.1091-39C>A
ENST00000502665.1:n.326-39C>A
ENST00000507209.5:n.5789-39C>A
ENST00000513354.5:n.181-39C>A
NM_207352.3:c.1091-39C>A	NP_997235.3:n.1091-39C>A
XM_005262935.2:c.1091-39C>A	XP_005262992.1:n.1091-39C>A
XM_006714184.2:c.695-39C>A	XP_006714247.1:n.695-39C>A
XM_005262935.4:c.1091-39C>A	XP_005262992.1:n.1091-39C>A
XM_017008037.1:c.695-39C>A	XP_016863526.1:n.695-39C>A
NM_207352.4:c.1091-39C>A MANE Select	NP_997235.3:n.1091-39C>A