Canonical Allele Identifier: CA442882528

Gene: CYP4V2 KLKB1

Linked Data

• dbSNP Id: rs1237630857
• gnomAD v2: 4-187130296-A-G
• gnomAD v4: 4-186209142-A-G
• MyVariant Identifiers: chr4:g.187130296A>G (hg19) ; chr4:g.186209142A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186209142A>G , CM000666.2:g.186209142A>G	GRCh38
NC_000004.11:g.187130296A>G , CM000666.1:g.187130296A>G	GRCh37
NC_000004.10:g.187367290A>G	NCBI36
NG_007965.1:g.22623A>G
NG_012095.2:g.5164A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.1275A>G (CYP4V2) MANE Select	ENSP00000368079.4:p.Ala425=
ENST00000378802.4:c.1275A>G (CYP4V2)	ENSP00000368079.4:p.Ala425=
ENST00000502665.1:n.510A>G (CYP4V2)
ENST00000507209.5:n.5973A>G (CYP4V2)
ENST00000511608.5:c.71A>G (KLKB1)
ENST00000513354.5:n.365A>G (CYP4V2)
NM_207352.3:c.1275A>G (CYP4V2)	NP_997235.3:p.Ala425=
XM_005262935.2:c.1272A>G (CYP4V2)	XP_005262992.1:p.Ala424=
XM_006714184.2:c.879A>G (CYP4V2)	XP_006714247.1:p.Ala293=
XM_005262935.4:c.1272A>G (CYP4V2)	XP_005262992.1:p.Ala424=
XM_017008037.1:c.879A>G (CYP4V2)	XP_016863526.1:p.Ala293=
NM_207352.4:c.1275A>G (CYP4V2) MANE Select	NP_997235.3:p.Ala425=