Canonical Allele Identifier: CA3162866

Gene: CYP4V2 KLKB1

Linked Data

• ClinVar Variation Id: 1052065
• ClinVar RCV Id: RCV001360183
• dbSNP Id: rs757530466
• ExAC: 4:187131661 T / C
• gnomAD v2: 4-187131661-T-C
• gnomAD v4: 4-186210507-T-C
• MyVariant Identifiers: chr4:g.187131661T>C (hg19) ; chr4:g.186210507T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186210507T>C , CM000666.2:g.186210507T>C	GRCh38
NC_000004.11:g.187131661T>C , CM000666.1:g.187131661T>C	GRCh37
NC_000004.10:g.187368655T>C	NCBI36
NG_007965.1:g.23988T>C
NG_012095.2:g.6529T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.1444T>C (CYP4V2) MANE Select	ENSP00000368079.4:p.Ser482Pro
ENST00000378802.4:c.1444T>C (CYP4V2)	ENSP00000368079.4:p.Ser482Pro
ENST00000502665.1:n.679T>C (CYP4V2)
ENST00000507209.5:n.6142T>C (CYP4V2)
ENST00000511608.5:c.201+1235T>C (KLKB1)
ENST00000513354.5:n.534T>C (CYP4V2)
NM_207352.3:c.1444T>C (CYP4V2)	NP_997235.3:p.Ser482Pro
XM_005262935.2:c.1441T>C (CYP4V2)	XP_005262992.1:p.Ser481Pro
XM_006714184.2:c.1048T>C (CYP4V2)	XP_006714247.1:p.Ser350Pro
XM_005262935.4:c.1441T>C (CYP4V2)	XP_005262992.1:p.Ser481Pro
XM_017008037.1:c.1048T>C (CYP4V2)	XP_016863526.1:p.Ser350Pro
NM_207352.4:c.1444T>C (CYP4V2) MANE Select	NP_997235.3:p.Ser482Pro