Canonical Allele Identifier: CA2672899263

Gene: CYP4V2 KLKB1

Linked Data

• gnomAD v4: 4-186211500-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186211500G>T , CM000666.2:g.186211500G>T	GRCh38
NC_000004.11:g.187132654G>T , CM000666.1:g.187132654G>T	GRCh37
NC_000004.10:g.187369648G>T	NCBI36
NG_007965.1:g.24981G>T
NG_012095.2:g.7522G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.*859G>T (CYP4V2) MANE Select	ENSP00000368079.4:n.*859G>T
ENST00000502665.1:n.1672G>T (CYP4V2)
ENST00000507209.5:n.7135G>T (CYP4V2)
ENST00000511608.5:c.201+2228G>T (KLKB1)
NM_207352.3:c.*859G>T (CYP4V2)	NP_997235.3:n.*859G>T
XM_005262935.2:c.*859G>T (CYP4V2)	XP_005262992.1:n.*859G>T
XM_006714184.2:c.*859G>T (CYP4V2)	XP_006714247.1:n.*859G>T
XM_011531931.1:c.-3209G>T (KLKB1)	XP_011530233.1:n.-3209G>T
XM_011531932.1:c.-3459G>T (KLKB1)	XP_011530234.1:n.-3459G>T
XM_011531933.1:c.-3273G>T (KLKB1)	XP_011530235.1:n.-3273G>T
XM_005262935.4:c.*859G>T (CYP4V2)	XP_005262992.1:n.*859G>T
XM_017008037.1:c.*859G>T (CYP4V2)	XP_016863526.1:n.*859G>T
NM_207352.4:c.*859G>T (CYP4V2) MANE Select	NP_997235.3:n.*859G>T