Canonical Allele Identifier: CA2672898833

Gene: CYP4V2 KLKB1

Linked Data

• gnomAD v4: 4-186211212-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186211212C>T , CM000666.2:g.186211212C>T	GRCh38
NC_000004.11:g.187132366C>T , CM000666.1:g.187132366C>T	GRCh37
NC_000004.10:g.187369360C>T	NCBI36
NG_007965.1:g.24693C>T
NG_012095.2:g.7234C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.*571C>T (CYP4V2) MANE Select	ENSP00000368079.4:n.*571C>T
ENST00000502665.1:n.1384C>T (CYP4V2)
ENST00000507209.5:n.6847C>T (CYP4V2)
ENST00000511608.5:c.201+1940C>T (KLKB1)
NM_207352.3:c.*571C>T (CYP4V2)	NP_997235.3:n.*571C>T
XM_005262935.2:c.*571C>T (CYP4V2)	XP_005262992.1:n.*571C>T
XM_006714184.2:c.*571C>T (CYP4V2)	XP_006714247.1:n.*571C>T
XM_011531931.1:c.-3497C>T (KLKB1)	XP_011530233.1:n.-3497C>T
XM_011531932.1:c.-3747C>T (KLKB1)	XP_011530234.1:n.-3747C>T
XM_011531933.1:c.-3561C>T (KLKB1)	XP_011530235.1:n.-3561C>T
XM_005262935.4:c.*571C>T (CYP4V2)	XP_005262992.1:n.*571C>T
XM_017008037.1:c.*571C>T (CYP4V2)	XP_016863526.1:n.*571C>T
NM_207352.4:c.*571C>T (CYP4V2) MANE Select	NP_997235.3:n.*571C>T