Canonical Allele Identifier: CA112137386

Gene: CYP4V2 KLKB1

Linked Data

• dbSNP Id: rs1003249063
• gnomAD v3: 4-186211218-A-G
• gnomAD v4: 4-186211218-A-G
• MyVariant Identifiers: chr4:g.187132372A>G (hg19) ; chr4:g.186211218A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186211218A>G , CM000666.2:g.186211218A>G	GRCh38
NC_000004.11:g.187132372A>G , CM000666.1:g.187132372A>G	GRCh37
NC_000004.10:g.187369366A>G	NCBI36
NG_007965.1:g.24699A>G
NG_012095.2:g.7240A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.*577A>G (CYP4V2) MANE Select	ENSP00000368079.4:n.*577A>G
ENST00000502665.1:n.1390A>G (CYP4V2)
ENST00000507209.5:n.6853A>G (CYP4V2)
ENST00000511608.5:c.201+1946A>G (KLKB1)
NM_207352.3:c.*577A>G (CYP4V2)	NP_997235.3:n.*577A>G
XM_005262935.2:c.*577A>G (CYP4V2)	XP_005262992.1:n.*577A>G
XM_006714184.2:c.*577A>G (CYP4V2)	XP_006714247.1:n.*577A>G
XM_011531931.1:c.-3491A>G (KLKB1)	XP_011530233.1:n.-3491A>G
XM_011531932.1:c.-3741A>G (KLKB1)	XP_011530234.1:n.-3741A>G
XM_011531933.1:c.-3555A>G (KLKB1)	XP_011530235.1:n.-3555A>G
XM_005262935.4:c.*577A>G (CYP4V2)	XP_005262992.1:n.*577A>G
XM_017008037.1:c.*577A>G (CYP4V2)	XP_016863526.1:n.*577A>G
NM_207352.4:c.*577A>G (CYP4V2) MANE Select	NP_997235.3:n.*577A>G