Canonical Allele Identifier: CA10617506

Gene: CYP4V2 KLKB1

Linked Data

• ClinVar Variation Id: 348310
• ClinVar RCV Id: RCV000343164 ; RCV000405205
• dbSNP Id: rs886059282
• MyVariant Identifiers: chr4:g.187130167A>G (hg19) ; chr4:g.186209013A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186209013A>G , CM000666.2:g.186209013A>G	GRCh38
NC_000004.11:g.187130167A>G , CM000666.1:g.187130167A>G	GRCh37
NC_000004.10:g.187367161A>G	NCBI36
NG_007965.1:g.22494A>G
NG_012095.2:g.5035A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000378802.5:c.1225+14A>G (CYP4V2) MANE Select	ENSP00000368079.4:n.1225+14A>G
ENST00000378802.4:c.1225+14A>G (CYP4V2)	ENSP00000368079.4:n.1225+14A>G
ENST00000502665.1:n.460+14A>G (CYP4V2)
ENST00000507209.5:n.5923+14A>G (CYP4V2)
ENST00000511608.5:c.21+14A>G (KLKB1)
ENST00000513354.5:n.315+14A>G (CYP4V2)
NM_207352.3:c.1225+14A>G (CYP4V2)	NP_997235.3:n.1225+14A>G
XM_005262935.2:c.1225+14A>G (CYP4V2)	XP_005262992.1:n.1225+14A>G
XM_006714184.2:c.829+14A>G (CYP4V2)	XP_006714247.1:n.829+14A>G
XM_005262935.4:c.1225+14A>G (CYP4V2)	XP_005262992.1:n.1225+14A>G
XM_017008037.1:c.829+14A>G (CYP4V2)	XP_016863526.1:n.829+14A>G
NM_207352.4:c.1225+14A>G (CYP4V2) MANE Select	NP_997235.3:n.1225+14A>G