Canonical Allele Identifier: CA2672898082

Gene: CYP4V2 KLKB1

Linked Data

• gnomAD v4: 4-186210331-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186210331G>T , CM000666.2:g.186210331G>T	GRCh38
NC_000004.11:g.187131485G>T , CM000666.1:g.187131485G>T	GRCh37
NC_000004.10:g.187368479G>T	NCBI36
NG_007965.1:g.23812G>T
NG_012095.2:g.6353G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.1406-138G>T (CYP4V2) MANE Select	ENSP00000368079.4:n.1406-138G>T
ENST00000378802.4:c.1406-138G>T (CYP4V2)	ENSP00000368079.4:n.1406-138G>T
ENST00000502665.1:n.641-138G>T (CYP4V2)
ENST00000507209.5:n.6104-138G>T (CYP4V2)
ENST00000511608.5:c.201+1059G>T (KLKB1)
ENST00000513354.5:n.496-138G>T (CYP4V2)
NM_207352.3:c.1406-138G>T (CYP4V2)	NP_997235.3:n.1406-138G>T
XM_005262935.2:c.1403-138G>T (CYP4V2)	XP_005262992.1:n.1403-138G>T
XM_006714184.2:c.1010-138G>T (CYP4V2)	XP_006714247.1:n.1010-138G>T
XM_005262935.4:c.1403-138G>T (CYP4V2)	XP_005262992.1:n.1403-138G>T
XM_017008037.1:c.1010-138G>T (CYP4V2)	XP_016863526.1:n.1010-138G>T
NM_207352.4:c.1406-138G>T (CYP4V2) MANE Select	NP_997235.3:n.1406-138G>T