Canonical Allele Identifier: CA792329398

Gene: CYP4V2 KLKB1

Linked Data

• dbSNP Id: rs1201455991
• gnomAD v3: 4-186210527-TTGGATAGAATC-T
• gnomAD v4: 4-186210527-TTGGATAGAATC-T
• MyVariant Identifiers: chr4:g.187131682_187131692del (hg19) ; chr4:g.186210528_186210538del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186210528_186210538del , CM000666.2:g.186210528_186210538del	GRCh38
NC_000004.11:g.187131682_187131692del , CM000666.1:g.187131682_187131692del	GRCh37
NC_000004.10:g.187368676_187368686del	NCBI36
NG_007965.1:g.24009_24019del
NG_012095.2:g.6550_6560del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.1465_1475del (CYP4V2) MANE Select	ENSP00000368079.4:p.Trp489GlnfsTer19
ENST00000378802.4:c.1465_1475del (CYP4V2)	ENSP00000368079.4:p.Trp489GlnfsTer19
ENST00000502665.1:n.700_710del (CYP4V2)
ENST00000507209.5:n.6163_6173del (CYP4V2)
ENST00000511608.5:c.201+1256_201+1266del (KLKB1)
ENST00000513354.5:n.555_565del (CYP4V2)
NM_207352.3:c.1465_1475del (CYP4V2)	NP_997235.3:p.Trp489GlnfsTer19
XM_005262935.2:c.1462_1472del (CYP4V2)	XP_005262992.1:p.Trp488GlnfsTer19
XM_006714184.2:c.1069_1079del (CYP4V2)	XP_006714247.1:p.Trp357GlnfsTer19
XM_005262935.4:c.1462_1472del (CYP4V2)	XP_005262992.1:p.Trp488GlnfsTer19
XM_017008037.1:c.1069_1079del (CYP4V2)	XP_016863526.1:p.Trp357GlnfsTer19
NM_207352.4:c.1465_1475del (CYP4V2) MANE Select	NP_997235.3:p.Trp489GlnfsTer19