Canonical Allele Identifier: CA112137614

Gene: CYP4V2 KLKB1

Linked Data

• dbSNP Id: rs901873635
• MyVariant Identifiers: chr4:g.187132574T>A (hg19) ; chr4:g.186211420T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186211420T>A , CM000666.2:g.186211420T>A	GRCh38
NC_000004.11:g.187132574T>A , CM000666.1:g.187132574T>A	GRCh37
NC_000004.10:g.187369568T>A	NCBI36
NG_007965.1:g.24901T>A
NG_012095.2:g.7442T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.*779T>A (CYP4V2) MANE Select	ENSP00000368079.4:n.*779T>A
ENST00000502665.1:n.1592T>A (CYP4V2)
ENST00000507209.5:n.7055T>A (CYP4V2)
ENST00000511608.5:c.201+2148T>A (KLKB1)
NM_207352.3:c.*779T>A (CYP4V2)	NP_997235.3:n.*779T>A
XM_005262935.2:c.*779T>A (CYP4V2)	XP_005262992.1:n.*779T>A
XM_006714184.2:c.*779T>A (CYP4V2)	XP_006714247.1:n.*779T>A
XM_011531931.1:c.-3289T>A (KLKB1)	XP_011530233.1:n.-3289T>A
XM_011531932.1:c.-3539T>A (KLKB1)	XP_011530234.1:n.-3539T>A
XM_011531933.1:c.-3353T>A (KLKB1)	XP_011530235.1:n.-3353T>A
XM_005262935.4:c.*779T>A (CYP4V2)	XP_005262992.1:n.*779T>A
XM_017008037.1:c.*779T>A (CYP4V2)	XP_016863526.1:n.*779T>A
NM_207352.4:c.*779T>A (CYP4V2) MANE Select	NP_997235.3:n.*779T>A