Canonical Allele Identifier: CA112137504

Gene: CYP4V2 KLKB1

Linked Data

• dbSNP Id: rs992371383
• gnomAD v2: 4-187132507-G-A
• gnomAD v3: 4-186211353-G-A
• gnomAD v4: 4-186211353-G-A
• COSMIC: COSN2517662
• MyVariant Identifiers: chr4:g.187132507G>A (hg19) ; chr4:g.186211353G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186211353G>A , CM000666.2:g.186211353G>A	GRCh38
NC_000004.11:g.187132507G>A , CM000666.1:g.187132507G>A	GRCh37
NC_000004.10:g.187369501G>A	NCBI36
NG_007965.1:g.24834G>A
NG_012095.2:g.7375G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.*712G>A (CYP4V2) MANE Select	ENSP00000368079.4:n.*712G>A
ENST00000502665.1:n.1525G>A (CYP4V2)
ENST00000507209.5:n.6988G>A (CYP4V2)
ENST00000511608.5:c.201+2081G>A (KLKB1)
NM_207352.3:c.*712G>A (CYP4V2)	NP_997235.3:n.*712G>A
XM_005262935.2:c.*712G>A (CYP4V2)	XP_005262992.1:n.*712G>A
XM_006714184.2:c.*712G>A (CYP4V2)	XP_006714247.1:n.*712G>A
XM_011531931.1:c.-3356G>A (KLKB1)	XP_011530233.1:n.-3356G>A
XM_011531932.1:c.-3606G>A (KLKB1)	XP_011530234.1:n.-3606G>A
XM_011531933.1:c.-3420G>A (KLKB1)	XP_011530235.1:n.-3420G>A
XM_005262935.4:c.*712G>A (CYP4V2)	XP_005262992.1:n.*712G>A
XM_017008037.1:c.*712G>A (CYP4V2)	XP_016863526.1:n.*712G>A
NM_207352.4:c.*712G>A (CYP4V2) MANE Select	NP_997235.3:n.*712G>A