Canonical Allele Identifier: CA557395764

Gene: CYP4V2 KLKB1

Linked Data

• ClinVar Variation Id: 1602209
• ClinVar RCV Id: RCV002129917
• dbSNP Id: rs1379961249
• gnomAD v2: 4-187130231-G-T
• gnomAD v4: 4-186209077-G-T
• MyVariant Identifiers: chr4:g.187130231G>T (hg19) ; chr4:g.186209077G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186209077G>T , CM000666.2:g.186209077G>T	GRCh38
NC_000004.11:g.187130231G>T , CM000666.1:g.187130231G>T	GRCh37
NC_000004.10:g.187367225G>T	NCBI36
NG_007965.1:g.22558G>T
NG_012095.2:g.5099G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000378802.5:c.1226-16G>T (CYP4V2) MANE Select	ENSP00000368079.4:n.1226-16G>T
ENST00000378802.4:c.1226-16G>T (CYP4V2)	ENSP00000368079.4:n.1226-16G>T
ENST00000502665.1:n.461-16G>T (CYP4V2)
ENST00000507209.5:n.5924-16G>T (CYP4V2)
ENST00000511608.5:c.22-16G>T (KLKB1)
ENST00000513354.5:n.316-16G>T (CYP4V2)
NM_207352.3:c.1226-16G>T (CYP4V2)	NP_997235.3:n.1226-16G>T
XM_005262935.2:c.1226-19G>T (CYP4V2)	XP_005262992.1:n.1226-19G>T
XM_006714184.2:c.830-16G>T (CYP4V2)	XP_006714247.1:n.830-16G>T
XM_005262935.4:c.1226-19G>T (CYP4V2)	XP_005262992.1:n.1226-19G>T
XM_017008037.1:c.830-16G>T (CYP4V2)	XP_016863526.1:n.830-16G>T
NM_207352.4:c.1226-16G>T (CYP4V2) MANE Select	NP_997235.3:n.1226-16G>T