Canonical Allele Identifier: CA557054789

Gene: CYP4V2 KLKB1

Linked Data

• dbSNP Id: rs1416291727
• gnomAD v2: 4-187132364-A-C
• gnomAD v3: 4-186211210-A-C
• gnomAD v4: 4-186211210-A-C
• MyVariant Identifiers: chr4:g.187132364A>C (hg19) ; chr4:g.186211210A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186211210A>C , CM000666.2:g.186211210A>C	GRCh38
NC_000004.11:g.187132364A>C , CM000666.1:g.187132364A>C	GRCh37
NC_000004.10:g.187369358A>C	NCBI36
NG_007965.1:g.24691A>C
NG_012095.2:g.7232A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000378802.5:c.*569A>C (CYP4V2) MANE Select	ENSP00000368079.4:n.*569A>C
ENST00000502665.1:n.1382A>C (CYP4V2)
ENST00000507209.5:n.6845A>C (CYP4V2)
ENST00000511608.5:c.201+1938A>C (KLKB1)
NM_207352.3:c.*569A>C (CYP4V2)	NP_997235.3:n.*569A>C
XM_005262935.2:c.*569A>C (CYP4V2)	XP_005262992.1:n.*569A>C
XM_006714184.2:c.*569A>C (CYP4V2)	XP_006714247.1:n.*569A>C
XM_011531931.1:c.-3499A>C (KLKB1)	XP_011530233.1:n.-3499A>C
XM_011531932.1:c.-3749A>C (KLKB1)	XP_011530234.1:n.-3749A>C
XM_011531933.1:c.-3563A>C (KLKB1)	XP_011530235.1:n.-3563A>C
XM_005262935.4:c.*569A>C (CYP4V2)	XP_005262992.1:n.*569A>C
XM_017008037.1:c.*569A>C (CYP4V2)	XP_016863526.1:n.*569A>C
NM_207352.4:c.*569A>C (CYP4V2) MANE Select	NP_997235.3:n.*569A>C