Canonical Allele Identifier: CA3162785

Gene: CYP4V2

Linked Data

• dbSNP Id: rs777857814
• ExAC: 4:187130130 G / A
• gnomAD v2: 4-187130130-G-A
• gnomAD v3: 4-186208976-G-A
• gnomAD v4: 4-186208976-G-A
• MyVariant Identifiers: chr4:g.187130130G>A (hg19) ; chr4:g.186208976G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186208976G>A , CM000666.2:g.186208976G>A	GRCh38
NC_000004.11:g.187130130G>A , CM000666.1:g.187130130G>A	GRCh37
NC_000004.10:g.187367124G>A	NCBI36
NG_007965.1:g.22457G>A
NG_012095.2:g.4998G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.1202G>A MANE Select	ENSP00000368079.4:p.Ser401Asn
ENST00000378802.4:c.1202G>A	ENSP00000368079.4:p.Ser401Asn
ENST00000502665.1:n.437G>A
ENST00000507209.5:n.5900G>A
ENST00000513354.5:n.292G>A
NM_207352.3:c.1202G>A	NP_997235.3:p.Ser401Asn
XM_005262935.2:c.1202G>A	XP_005262992.1:p.Ser401Asn
XM_006714184.2:c.806G>A	XP_006714247.1:p.Ser269Asn
XM_005262935.4:c.1202G>A	XP_005262992.1:p.Ser401Asn
XM_017008037.1:c.806G>A	XP_016863526.1:p.Ser269Asn
NM_207352.4:c.1202G>A MANE Select	NP_997235.3:p.Ser401Asn