Canonical Allele Identifier: CA2764875531

Gene: CYP4V2 KLKB1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186211696C>G , CM000666.2:g.186211696C>G	GRCh38
NC_000004.11:g.187132850C>G , CM000666.1:g.187132850C>G	GRCh37
NC_000004.10:g.187369844C>G	NCBI36
NG_007965.1:g.25177C>G
NG_012095.2:g.7718C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.*1055C>G (CYP4V2) MANE Select	ENSP00000368079.4:n.*1055C>G
ENST00000502665.1:n.1868C>G (CYP4V2)
ENST00000507209.5:n.7331C>G (CYP4V2)
ENST00000511608.5:c.201+2424C>G (KLKB1)
NM_207352.3:c.*1055C>G (CYP4V2)	NP_997235.3:n.*1055C>G
XM_005262935.2:c.*1055C>G (CYP4V2)	XP_005262992.1:n.*1055C>G
XM_006714184.2:c.*1055C>G (CYP4V2)	XP_006714247.1:n.*1055C>G
XM_011531931.1:c.-3013C>G (KLKB1)	XP_011530233.1:n.-3013C>G
XM_011531932.1:c.-3263C>G (KLKB1)	XP_011530234.1:n.-3263C>G
XM_011531933.1:c.-3077C>G (KLKB1)	XP_011530235.1:n.-3077C>G
XM_005262935.4:c.*1055C>G (CYP4V2)	XP_005262992.1:n.*1055C>G
XM_017008037.1:c.*1055C>G (CYP4V2)	XP_016863526.1:n.*1055C>G
NM_207352.4:c.*1055C>G (CYP4V2) MANE Select	NP_997235.3:n.*1055C>G