Canonical Allele Identifier: CA112131450

Gene: CYP4V2

Linked Data

• dbSNP Id: rs1052479053
• gnomAD v2: 4-187126174-G-A
• gnomAD v3: 4-186205020-G-A
• gnomAD v4: 4-186205020-G-A
• MyVariant Identifiers: chr4:g.187126174G>A (hg19) ; chr4:g.186205020G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186205020G>A , CM000666.2:g.186205020G>A	GRCh38
NC_000004.11:g.187126174G>A , CM000666.1:g.187126174G>A	GRCh37
NC_000004.10:g.187363168G>A	NCBI36
NG_007965.1:g.18501G>A
NG_012095.2:g.1042G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000378802.5:c.988-180G>A MANE Select	ENSP00000368079.4:n.988-180G>A
ENST00000378802.4:c.988-180G>A	ENSP00000368079.4:n.988-180G>A
ENST00000502665.1:n.184G>A
ENST00000507209.5:n.5506G>A
ENST00000513354.5:n.78-180G>A
NM_207352.3:c.988-180G>A	NP_997235.3:n.988-180G>A
XM_005262935.2:c.988-180G>A	XP_005262992.1:n.988-180G>A
XM_006714184.2:c.592-180G>A	XP_006714247.1:n.592-180G>A
XM_005262935.4:c.988-180G>A	XP_005262992.1:n.988-180G>A
XM_017008037.1:c.592-180G>A	XP_016863526.1:n.592-180G>A
NM_207352.4:c.988-180G>A MANE Select	NP_997235.3:n.988-180G>A