Canonical Allele Identifier: CA3162874

Gene: CYP4V2 KLKB1

Linked Data

• dbSNP Id: rs747710403
• ExAC: 4:187131676 C / G
• gnomAD v2: 4-187131676-C-G
• COSMIC: COSM481121
• MyVariant Identifiers: chr4:g.187131676C>G (hg19) ; chr4:g.186210522C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186210522C>G , CM000666.2:g.186210522C>G	GRCh38
NC_000004.11:g.187131676C>G , CM000666.1:g.187131676C>G	GRCh37
NC_000004.10:g.187368670C>G	NCBI36
NG_007965.1:g.24003C>G
NG_012095.2:g.6544C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.1459C>G (CYP4V2) MANE Select	ENSP00000368079.4:p.His487Asp
ENST00000378802.4:c.1459C>G (CYP4V2)	ENSP00000368079.4:p.His487Asp
ENST00000502665.1:n.694C>G (CYP4V2)
ENST00000507209.5:n.6157C>G (CYP4V2)
ENST00000511608.5:c.201+1250C>G (KLKB1)
ENST00000513354.5:n.549C>G (CYP4V2)
NM_207352.3:c.1459C>G (CYP4V2)	NP_997235.3:p.His487Asp
XM_005262935.2:c.1456C>G (CYP4V2)	XP_005262992.1:p.His486Asp
XM_006714184.2:c.1063C>G (CYP4V2)	XP_006714247.1:p.His355Asp
XM_005262935.4:c.1456C>G (CYP4V2)	XP_005262992.1:p.His486Asp
XM_017008037.1:c.1063C>G (CYP4V2)	XP_016863526.1:p.His355Asp
NM_207352.4:c.1459C>G (CYP4V2) MANE Select	NP_997235.3:p.His487Asp