Canonical Allele Identifier: CA3162588

Gene: CYP4V2

Linked Data

• dbSNP Id: rs747545322
• ExAC: 4:187118275 A / G
• gnomAD v2: 4-187118275-A-G
• gnomAD v4: 4-186197121-A-G
• MyVariant Identifiers: chr4:g.187118275A>G (hg19) ; chr4:g.186197121A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186197121A>G , CM000666.2:g.186197121A>G	GRCh38
NC_000004.11:g.187118275A>G , CM000666.1:g.187118275A>G	GRCh37
NC_000004.10:g.187355269A>G	NCBI36
NG_007965.1:g.10602A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.595A>G MANE Select	ENSP00000368079.4:p.Ile199Val
ENST00000378802.4:c.595A>G	ENSP00000368079.4:p.Ile199Val
ENST00000507209.5:n.1034A>G
NM_207352.3:c.595A>G	NP_997235.3:p.Ile199Val
XM_005262935.2:c.595A>G	XP_005262992.1:p.Ile199Val
XM_006714184.2:c.199A>G	XP_006714247.1:p.Ile67Val
XM_005262935.4:c.595A>G	XP_005262992.1:p.Ile199Val
XM_017008037.1:c.199A>G	XP_016863526.1:p.Ile67Val
NM_207352.4:c.595A>G MANE Select	NP_997235.3:p.Ile199Val