Canonical Allele Identifier: CA358948043
Gene: CYP4V2 HGNC NCBI

Linked Data

dbSNP Id: rs1302488769
gnomAD v2: 4-187120187-G-A
gnomAD v3: 4-186199033-G-A
gnomAD v4: 4-186199033-G-A
MyVariant Identifiers: chr4:g.187120187G>A (hg19) chr4:g.186199033G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186199033G>A , CM000666.2:g.186199033G>A GRCh38
NC_000004.11:g.187120187G>A , CM000666.1:g.187120187G>A GRCh37
NC_000004.10:g.187357181G>A NCBI36
NG_007965.1:g.12514G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.751G>A MANE Select ENSP00000368079.4:p.Gly251Arg
ENST00000378802.4:c.751G>A ENSP00000368079.4:p.Gly251Arg
ENST00000507209.5:n.1592G>A
NM_207352.3:c.751G>A NP_997235.3:p.Gly251Arg
XM_005262935.2:c.751G>A XP_005262992.1:p.Gly251Arg
XM_006714184.2:c.355G>A XP_006714247.1:p.Gly119Arg
XM_005262935.4:c.751G>A XP_005262992.1:p.Gly251Arg
XM_017008037.1:c.355G>A XP_016863526.1:p.Gly119Arg
NM_207352.4:c.751G>A MANE Select NP_997235.3:p.Gly251Arg
Search 100 bp 5'
Search 100 bp 3'