Canonical Allele Identifier: CA2764875429

Gene: CYP4V2 KLKB1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186211488A>G , CM000666.2:g.186211488A>G	GRCh38
NC_000004.11:g.187132642A>G , CM000666.1:g.187132642A>G	GRCh37
NC_000004.10:g.187369636A>G	NCBI36
NG_007965.1:g.24969A>G
NG_012095.2:g.7510A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.*847A>G (CYP4V2) MANE Select	ENSP00000368079.4:n.*847A>G
ENST00000502665.1:n.1660A>G (CYP4V2)
ENST00000507209.5:n.7123A>G (CYP4V2)
ENST00000511608.5:c.201+2216A>G (KLKB1)
NM_207352.3:c.*847A>G (CYP4V2)	NP_997235.3:n.*847A>G
XM_005262935.2:c.*847A>G (CYP4V2)	XP_005262992.1:n.*847A>G
XM_006714184.2:c.*847A>G (CYP4V2)	XP_006714247.1:n.*847A>G
XM_011531931.1:c.-3221A>G (KLKB1)	XP_011530233.1:n.-3221A>G
XM_011531932.1:c.-3471A>G (KLKB1)	XP_011530234.1:n.-3471A>G
XM_011531933.1:c.-3285A>G (KLKB1)	XP_011530235.1:n.-3285A>G
XM_005262935.4:c.*847A>G (CYP4V2)	XP_005262992.1:n.*847A>G
XM_017008037.1:c.*847A>G (CYP4V2)	XP_016863526.1:n.*847A>G
NM_207352.4:c.*847A>G (CYP4V2) MANE Select	NP_997235.3:n.*847A>G