Canonical Allele Identifier: CA10620624

Gene: CYP4V2 KLKB1

Linked Data

• ClinVar Variation Id: 348328
• ClinVar RCV Id: RCV000343653 ; RCV000407547
• dbSNP Id: rs886059286
• gnomAD v4: 4-186211660-CACAT-C
• MyVariant Identifiers: chr4:g.187132818_187132821del (hg19) ; chr4:g.187132815_187132818del (hg19) ; chr4:g.186211664_186211667del (hg38) ; chr4:g.186211661_186211664del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186211664_186211667del , CM000666.2:g.186211664_186211667del	GRCh38
NC_000004.11:g.187132818_187132821del , CM000666.1:g.187132818_187132821del	GRCh37
NC_000004.10:g.187369812_187369815del	NCBI36
NG_007965.1:g.25145_25148del
NG_012095.2:g.7686_7689del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.*1023_*1026del (CYP4V2) MANE Select	ENSP00000368079.4:n.*1023_*1026del
ENST00000502665.1:n.1836_1839del (CYP4V2)
ENST00000507209.5:n.7299_7302del (CYP4V2)
ENST00000511608.5:c.201+2392_201+2395del (KLKB1)
NM_207352.3:c.*1023_*1026del (CYP4V2)	NP_997235.3:n.*1023_*1026del
XM_005262935.2:c.*1023_*1026del (CYP4V2)	XP_005262992.1:n.*1023_*1026del
XM_006714184.2:c.*1023_*1026del (CYP4V2)	XP_006714247.1:n.*1023_*1026del
XM_011531931.1:c.-3045_-3042del (KLKB1)	XP_011530233.1:n.-3045_-3042del
XM_011531932.1:c.-3295_-3292del (KLKB1)	XP_011530234.1:n.-3295_-3292del
XM_011531933.1:c.-3109_-3106del (KLKB1)	XP_011530235.1:n.-3109_-3106del
XM_005262935.4:c.*1023_*1026del (CYP4V2)	XP_005262992.1:n.*1023_*1026del
XM_017008037.1:c.*1023_*1026del (CYP4V2)	XP_016863526.1:n.*1023_*1026del
NM_207352.4:c.*1023_*1026del (CYP4V2) MANE Select	NP_997235.3:n.*1023_*1026del