Canonical Allele Identifier: CA3162893

Gene: CYP4V2 KLKB1

Linked Data

• dbSNP Id: rs748775577
• ExAC: 4:187131778 A / T
• gnomAD v2: 4-187131778-A-T
• gnomAD v4: 4-186210624-A-T
• MyVariant Identifiers: chr4:g.187131778A>T (hg19) ; chr4:g.186210624A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186210624A>T , CM000666.2:g.186210624A>T	GRCh38
NC_000004.11:g.187131778A>T , CM000666.1:g.187131778A>T	GRCh37
NC_000004.10:g.187368772A>T	NCBI36
NG_007965.1:g.24105A>T
NG_012095.2:g.6646A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.1561A>T (CYP4V2) MANE Select	ENSP00000368079.4:p.Asn521Tyr
ENST00000378802.4:c.1561A>T (CYP4V2)	ENSP00000368079.4:p.Asn521Tyr
ENST00000502665.1:n.796A>T (CYP4V2)
ENST00000507209.5:n.6259A>T (CYP4V2)
ENST00000511608.5:c.201+1352A>T (KLKB1)
ENST00000513354.5:n.651A>T (CYP4V2)
NM_207352.3:c.1561A>T (CYP4V2)	NP_997235.3:p.Asn521Tyr
XM_005262935.2:c.1558A>T (CYP4V2)	XP_005262992.1:p.Asn520Tyr
XM_006714184.2:c.1165A>T (CYP4V2)	XP_006714247.1:p.Asn389Tyr
XM_005262935.4:c.1558A>T (CYP4V2)	XP_005262992.1:p.Asn520Tyr
XM_017008037.1:c.1165A>T (CYP4V2)	XP_016863526.1:p.Asn389Tyr
NM_207352.4:c.1561A>T (CYP4V2) MANE Select	NP_997235.3:p.Asn521Tyr