Canonical Allele Identifier: CA3162580

Gene: CYP4V2

Linked Data

• ClinVar Variation Id: 1466330
• ClinVar RCV Id: RCV001966048
• dbSNP Id: rs138297987
• ExAC: 4:187118222 T / A
• gnomAD v2: 4-187118222-T-A
• gnomAD v3: 4-186197068-T-A
• gnomAD v4: 4-186197068-T-A
• MyVariant Identifiers: chr4:g.187118222T>A (hg19) ; chr4:g.186197068T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186197068T>A , CM000666.2:g.186197068T>A	GRCh38
NC_000004.11:g.187118222T>A , CM000666.1:g.187118222T>A	GRCh37
NC_000004.10:g.187355216T>A	NCBI36
NG_007965.1:g.10549T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.542T>A MANE Select	ENSP00000368079.4:p.Ile181Asn
ENST00000378802.4:c.542T>A	ENSP00000368079.4:p.Ile181Asn
ENST00000507209.5:n.981T>A
NM_207352.3:c.542T>A	NP_997235.3:p.Ile181Asn
XM_005262935.2:c.542T>A	XP_005262992.1:p.Ile181Asn
XM_006714184.2:c.146T>A	XP_006714247.1:p.Ile49Asn
XM_005262935.4:c.542T>A	XP_005262992.1:p.Ile181Asn
XM_017008037.1:c.146T>A	XP_016863526.1:p.Ile49Asn
NM_207352.4:c.542T>A MANE Select	NP_997235.3:p.Ile181Asn