Canonical Allele Identifier: CA3162895

Gene: CYP4V2 KLKB1

Linked Data

• dbSNP Id: rs201425369
• ExAC: 4:187131784 G / A
• gnomAD v2: 4-187131784-G-A
• gnomAD v3: 4-186210630-G-A
• gnomAD v4: 4-186210630-G-A
• MyVariant Identifiers: chr4:g.187131784G>A (hg19) ; chr4:g.186210630G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186210630G>A , CM000666.2:g.186210630G>A	GRCh38
NC_000004.11:g.187131784G>A , CM000666.1:g.187131784G>A	GRCh37
NC_000004.10:g.187368778G>A	NCBI36
NG_007965.1:g.24111G>A
NG_012095.2:g.6652G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.1567G>A (CYP4V2) MANE Select	ENSP00000368079.4:p.Asp523Asn
ENST00000378802.4:c.1567G>A (CYP4V2)	ENSP00000368079.4:p.Asp523Asn
ENST00000502665.1:n.802G>A (CYP4V2)
ENST00000507209.5:n.6265G>A (CYP4V2)
ENST00000511608.5:c.201+1358G>A (KLKB1)
ENST00000513354.5:n.657G>A (CYP4V2)
NM_207352.3:c.1567G>A (CYP4V2)	NP_997235.3:p.Asp523Asn
XM_005262935.2:c.1564G>A (CYP4V2)	XP_005262992.1:p.Asp522Asn
XM_006714184.2:c.1171G>A (CYP4V2)	XP_006714247.1:p.Asp391Asn
XM_005262935.4:c.1564G>A (CYP4V2)	XP_005262992.1:p.Asp522Asn
XM_017008037.1:c.1171G>A (CYP4V2)	XP_016863526.1:p.Asp391Asn
NM_207352.4:c.1567G>A (CYP4V2) MANE Select	NP_997235.3:p.Asp523Asn