Canonical Allele Identifier: CA3162899

Gene: CYP4V2 KLKB1

Linked Data

• dbSNP Id: rs374456144
• ExAC: 4:187131798 A / G
• gnomAD v2: 4-187131798-A-G
• gnomAD v4: 4-186210644-A-G
• MyVariant Identifiers: chr4:g.187131798A>G (hg19) ; chr4:g.186210644A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186210644A>G , CM000666.2:g.186210644A>G	GRCh38
NC_000004.11:g.187131798A>G , CM000666.1:g.187131798A>G	GRCh37
NC_000004.10:g.187368792A>G	NCBI36
NG_007965.1:g.24125A>G
NG_012095.2:g.6666A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.*3A>G (CYP4V2) MANE Select	ENSP00000368079.4:n.*3A>G
ENST00000378802.4:c.*3A>G (CYP4V2)	ENSP00000368079.4:n.*3A>G
ENST00000502665.1:n.816A>G (CYP4V2)
ENST00000507209.5:n.6279A>G (CYP4V2)
ENST00000511608.5:c.201+1372A>G (KLKB1)
ENST00000513354.5:n.671A>G (CYP4V2)
NM_207352.3:c.*3A>G (CYP4V2)	NP_997235.3:n.*3A>G
XM_005262935.2:c.*3A>G (CYP4V2)	XP_005262992.1:n.*3A>G
XM_006714184.2:c.*3A>G (CYP4V2)	XP_006714247.1:n.*3A>G
XM_005262935.4:c.*3A>G (CYP4V2)	XP_005262992.1:n.*3A>G
XM_017008037.1:c.*3A>G (CYP4V2)	XP_016863526.1:n.*3A>G
NM_207352.4:c.*3A>G (CYP4V2) MANE Select	NP_997235.3:n.*3A>G