Canonical Allele Identifier: CA557395911

Gene: CYP4V2 KLKB1

Linked Data

• dbSNP Id: rs1490786783
• gnomAD v2: 4-187131847-AT-A
• gnomAD v3: 4-186210693-AT-A
• gnomAD v4: 4-186210693-AT-A
• MyVariant Identifiers: chr4:g.187131848del (hg19) ; chr4:g.186210694del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186210694del , CM000666.2:g.186210694del	GRCh38
NC_000004.11:g.187131848del , CM000666.1:g.187131848del	GRCh37
NC_000004.10:g.187368842del	NCBI36
NG_007965.1:g.24175del
NG_012095.2:g.6716del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.*53del (CYP4V2) MANE Select	ENSP00000368079.4:n.*53del
ENST00000378802.4:c.*53del (CYP4V2)	ENSP00000368079.4:n.*53del
ENST00000502665.1:n.866del (CYP4V2)
ENST00000507209.5:n.6329del (CYP4V2)
ENST00000511608.5:c.201+1422del (KLKB1)
ENST00000513354.5:n.721del (CYP4V2)
NM_207352.3:c.*53del (CYP4V2)	NP_997235.3:n.*53del
XM_005262935.2:c.*53del (CYP4V2)	XP_005262992.1:n.*53del
XM_006714184.2:c.*53del (CYP4V2)	XP_006714247.1:n.*53del
XM_005262935.4:c.*53del (CYP4V2)	XP_005262992.1:n.*53del
XM_017008037.1:c.*53del (CYP4V2)	XP_016863526.1:n.*53del
NM_207352.4:c.*53del (CYP4V2) MANE Select	NP_997235.3:n.*53del