Canonical Allele Identifier: CA358950405

Gene: CYP4V2 KLKB1

Linked Data

• dbSNP Id: rs1044405297
• gnomAD v2: 4-187130279-G-T
• gnomAD v4: 4-186209125-G-T
• MyVariant Identifiers: chr4:g.187130279G>T (hg19) ; chr4:g.186209125G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186209125G>T , CM000666.2:g.186209125G>T	GRCh38
NC_000004.11:g.187130279G>T , CM000666.1:g.187130279G>T	GRCh37
NC_000004.10:g.187367273G>T	NCBI36
NG_007965.1:g.22606G>T
NG_012095.2:g.5147G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000378802.5:c.1258G>T (CYP4V2) MANE Select	ENSP00000368079.4:p.Val420Phe
ENST00000378802.4:c.1258G>T (CYP4V2)	ENSP00000368079.4:p.Val420Phe
ENST00000502665.1:n.493G>T (CYP4V2)
ENST00000507209.5:n.5956G>T (CYP4V2)
ENST00000511608.5:c.54G>T (KLKB1)
ENST00000513354.5:n.348G>T (CYP4V2)
NM_207352.3:c.1258G>T (CYP4V2)	NP_997235.3:p.Val420Phe
XM_005262935.2:c.1255G>T (CYP4V2)	XP_005262992.1:p.Val419Phe
XM_006714184.2:c.862G>T (CYP4V2)	XP_006714247.1:p.Val288Phe
XM_005262935.4:c.1255G>T (CYP4V2)	XP_005262992.1:p.Val419Phe
XM_017008037.1:c.862G>T (CYP4V2)	XP_016863526.1:p.Val288Phe
NM_207352.4:c.1258G>T (CYP4V2) MANE Select	NP_997235.3:p.Val420Phe