Canonical Allele Identifier: CA2672898868

Gene: CYP4V2 KLKB1

Linked Data

• gnomAD v4: 4-186211324-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186211324G>A , CM000666.2:g.186211324G>A	GRCh38
NC_000004.11:g.187132478G>A , CM000666.1:g.187132478G>A	GRCh37
NC_000004.10:g.187369472G>A	NCBI36
NG_007965.1:g.24805G>A
NG_012095.2:g.7346G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000378802.5:c.*683G>A (CYP4V2) MANE Select	ENSP00000368079.4:n.*683G>A
ENST00000502665.1:n.1496G>A (CYP4V2)
ENST00000507209.5:n.6959G>A (CYP4V2)
ENST00000511608.5:c.201+2052G>A (KLKB1)
NM_207352.3:c.*683G>A (CYP4V2)	NP_997235.3:n.*683G>A
XM_005262935.2:c.*683G>A (CYP4V2)	XP_005262992.1:n.*683G>A
XM_006714184.2:c.*683G>A (CYP4V2)	XP_006714247.1:n.*683G>A
XM_011531931.1:c.-3385G>A (KLKB1)	XP_011530233.1:n.-3385G>A
XM_011531932.1:c.-3635G>A (KLKB1)	XP_011530234.1:n.-3635G>A
XM_011531933.1:c.-3449G>A (KLKB1)	XP_011530235.1:n.-3449G>A
XM_005262935.4:c.*683G>A (CYP4V2)	XP_005262992.1:n.*683G>A
XM_017008037.1:c.*683G>A (CYP4V2)	XP_016863526.1:n.*683G>A
NM_207352.4:c.*683G>A (CYP4V2) MANE Select	NP_997235.3:n.*683G>A