Canonical Allele Identifier: CA1071995379

Gene: CYP4V2

Linked Data

• dbSNP Id: rs1736607640
• gnomAD v3: 4-186208753-T-C
• gnomAD v4: 4-186208753-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186208753T>C , CM000666.2:g.186208753T>C	GRCh38
NC_000004.11:g.187129907T>C , CM000666.1:g.187129907T>C	GRCh37
NC_000004.10:g.187366901T>C	NCBI36
NG_007965.1:g.22234T>C
NG_012095.2:g.4775T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000378802.5:c.1091-112T>C MANE Select	ENSP00000368079.4:n.1091-112T>C
ENST00000378802.4:c.1091-112T>C	ENSP00000368079.4:n.1091-112T>C
ENST00000502665.1:n.326-112T>C
ENST00000507209.5:n.5789-112T>C
ENST00000513354.5:n.181-112T>C
NM_207352.3:c.1091-112T>C	NP_997235.3:n.1091-112T>C
XM_005262935.2:c.1091-112T>C	XP_005262992.1:n.1091-112T>C
XM_006714184.2:c.695-112T>C	XP_006714247.1:n.695-112T>C
XM_005262935.4:c.1091-112T>C	XP_005262992.1:n.1091-112T>C
XM_017008037.1:c.695-112T>C	XP_016863526.1:n.695-112T>C
NM_207352.4:c.1091-112T>C MANE Select	NP_997235.3:n.1091-112T>C