Canonical Allele Identifier: CA3162903

Gene: CYP4V2 KLKB1

Linked Data

• dbSNP Id: rs751706717
• ExAC: 4:187131806 G / C
• gnomAD v2: 4-187131806-G-C
• gnomAD v3: 4-186210652-G-C
• gnomAD v4: 4-186210652-G-C
• MyVariant Identifiers: chr4:g.187131806G>C (hg19) ; chr4:g.186210652G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186210652G>C , CM000666.2:g.186210652G>C	GRCh38
NC_000004.11:g.187131806G>C , CM000666.1:g.187131806G>C	GRCh37
NC_000004.10:g.187368800G>C	NCBI36
NG_007965.1:g.24133G>C
NG_012095.2:g.6674G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000378802.5:c.*11G>C (CYP4V2) MANE Select	ENSP00000368079.4:n.*11G>C
ENST00000378802.4:c.*11G>C (CYP4V2)	ENSP00000368079.4:n.*11G>C
ENST00000502665.1:n.824G>C (CYP4V2)
ENST00000507209.5:n.6287G>C (CYP4V2)
ENST00000511608.5:c.201+1380G>C (KLKB1)
ENST00000513354.5:n.679G>C (CYP4V2)
NM_207352.3:c.*11G>C (CYP4V2)	NP_997235.3:n.*11G>C
XM_005262935.2:c.*11G>C (CYP4V2)	XP_005262992.1:n.*11G>C
XM_006714184.2:c.*11G>C (CYP4V2)	XP_006714247.1:n.*11G>C
XM_005262935.4:c.*11G>C (CYP4V2)	XP_005262992.1:n.*11G>C
XM_017008037.1:c.*11G>C (CYP4V2)	XP_016863526.1:n.*11G>C
NM_207352.4:c.*11G>C (CYP4V2) MANE Select	NP_997235.3:n.*11G>C