Canonical Allele Identifier: CA557395763

Gene: CYP4V2 KLKB1

Linked Data

• dbSNP Id: rs1482936892
• gnomAD v2: 4-187130226-G-C
• gnomAD v3: 4-186209072-G-C
• gnomAD v4: 4-186209072-G-C
• MyVariant Identifiers: chr4:g.187130226G>C (hg19) ; chr4:g.186209072G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186209072G>C , CM000666.2:g.186209072G>C	GRCh38
NC_000004.11:g.187130226G>C , CM000666.1:g.187130226G>C	GRCh37
NC_000004.10:g.187367220G>C	NCBI36
NG_007965.1:g.22553G>C
NG_012095.2:g.5094G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000378802.5:c.1226-21G>C (CYP4V2) MANE Select	ENSP00000368079.4:n.1226-21G>C
ENST00000378802.4:c.1226-21G>C (CYP4V2)	ENSP00000368079.4:n.1226-21G>C
ENST00000502665.1:n.461-21G>C (CYP4V2)
ENST00000507209.5:n.5924-21G>C (CYP4V2)
ENST00000511608.5:c.22-21G>C (KLKB1)
ENST00000513354.5:n.316-21G>C (CYP4V2)
NM_207352.3:c.1226-21G>C (CYP4V2)	NP_997235.3:n.1226-21G>C
XM_005262935.2:c.1226-24G>C (CYP4V2)	XP_005262992.1:n.1226-24G>C
XM_006714184.2:c.830-21G>C (CYP4V2)	XP_006714247.1:n.830-21G>C
XM_005262935.4:c.1226-24G>C (CYP4V2)	XP_005262992.1:n.1226-24G>C
XM_017008037.1:c.830-21G>C (CYP4V2)	XP_016863526.1:n.830-21G>C
NM_207352.4:c.1226-21G>C (CYP4V2) MANE Select	NP_997235.3:n.1226-21G>C