Canonical Allele Identifier: CA3162875

Gene: CYP4V2 KLKB1

Linked Data

• ClinVar Variation Id: 3079742
• ClinVar RCV Id: RCV004370586
• dbSNP Id: rs772532141
• ExAC: 4:187131695 A / G
• gnomAD v2: 4-187131695-A-G
• gnomAD v3: 4-186210541-A-G
• gnomAD v4: 4-186210541-A-G
• MyVariant Identifiers: chr4:g.187131695A>G (hg19) ; chr4:g.186210541A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186210541A>G , CM000666.2:g.186210541A>G	GRCh38
NC_000004.11:g.187131695A>G , CM000666.1:g.187131695A>G	GRCh37
NC_000004.10:g.187368689A>G	NCBI36
NG_007965.1:g.24022A>G
NG_012095.2:g.6563A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.1478A>G (CYP4V2) MANE Select	ENSP00000368079.4:p.Asn493Ser
ENST00000378802.4:c.1478A>G (CYP4V2)	ENSP00000368079.4:p.Asn493Ser
ENST00000502665.1:n.713A>G (CYP4V2)
ENST00000507209.5:n.6176A>G (CYP4V2)
ENST00000511608.5:c.201+1269A>G (KLKB1)
ENST00000513354.5:n.568A>G (CYP4V2)
NM_207352.3:c.1478A>G (CYP4V2)	NP_997235.3:p.Asn493Ser
XM_005262935.2:c.1475A>G (CYP4V2)	XP_005262992.1:p.Asn492Ser
XM_006714184.2:c.1082A>G (CYP4V2)	XP_006714247.1:p.Asn361Ser
XM_005262935.4:c.1475A>G (CYP4V2)	XP_005262992.1:p.Asn492Ser
XM_017008037.1:c.1082A>G (CYP4V2)	XP_016863526.1:p.Asn361Ser
NM_207352.4:c.1478A>G (CYP4V2) MANE Select	NP_997235.3:p.Asn493Ser