Canonical Allele Identifier: CA112136220

Gene: CYP4V2 KLKB1

Linked Data

• dbSNP Id: rs571155117
• gnomAD v3: 4-186210233-A-T
• gnomAD v4: 4-186210233-A-T
• MyVariant Identifiers: chr4:g.187131387A>T (hg19) ; chr4:g.186210233A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186210233A>T , CM000666.2:g.186210233A>T	GRCh38
NC_000004.11:g.187131387A>T , CM000666.1:g.187131387A>T	GRCh37
NC_000004.10:g.187368381A>T	NCBI36
NG_007965.1:g.23714A>T
NG_012095.2:g.6255A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.1406-236A>T (CYP4V2) MANE Select	ENSP00000368079.4:n.1406-236A>T
ENST00000378802.4:c.1406-236A>T (CYP4V2)	ENSP00000368079.4:n.1406-236A>T
ENST00000502665.1:n.641-236A>T (CYP4V2)
ENST00000507209.5:n.6104-236A>T (CYP4V2)
ENST00000511608.5:c.201+961A>T (KLKB1)
ENST00000513354.5:n.496-236A>T (CYP4V2)
NM_207352.3:c.1406-236A>T (CYP4V2)	NP_997235.3:n.1406-236A>T
XM_005262935.2:c.1403-236A>T (CYP4V2)	XP_005262992.1:n.1403-236A>T
XM_006714184.2:c.1010-236A>T (CYP4V2)	XP_006714247.1:n.1010-236A>T
XM_005262935.4:c.1403-236A>T (CYP4V2)	XP_005262992.1:n.1403-236A>T
XM_017008037.1:c.1010-236A>T (CYP4V2)	XP_016863526.1:n.1010-236A>T
NM_207352.4:c.1406-236A>T (CYP4V2) MANE Select	NP_997235.3:n.1406-236A>T