Canonical Allele Identifier: CA112137666

Gene: CYP4V2 KLKB1

Linked Data

• dbSNP Id: rs1000916892
• gnomAD v4: 4-186211458-C-T
• MyVariant Identifiers: chr4:g.187132612C>T (hg19) ; chr4:g.186211458C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186211458C>T , CM000666.2:g.186211458C>T	GRCh38
NC_000004.11:g.187132612C>T , CM000666.1:g.187132612C>T	GRCh37
NC_000004.10:g.187369606C>T	NCBI36
NG_007965.1:g.24939C>T
NG_012095.2:g.7480C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.*817C>T (CYP4V2) MANE Select	ENSP00000368079.4:n.*817C>T
ENST00000502665.1:n.1630C>T (CYP4V2)
ENST00000507209.5:n.7093C>T (CYP4V2)
ENST00000511608.5:c.201+2186C>T (KLKB1)
NM_207352.3:c.*817C>T (CYP4V2)	NP_997235.3:n.*817C>T
XM_005262935.2:c.*817C>T (CYP4V2)	XP_005262992.1:n.*817C>T
XM_006714184.2:c.*817C>T (CYP4V2)	XP_006714247.1:n.*817C>T
XM_011531931.1:c.-3251C>T (KLKB1)	XP_011530233.1:n.-3251C>T
XM_011531932.1:c.-3501C>T (KLKB1)	XP_011530234.1:n.-3501C>T
XM_011531933.1:c.-3315C>T (KLKB1)	XP_011530235.1:n.-3315C>T
XM_005262935.4:c.*817C>T (CYP4V2)	XP_005262992.1:n.*817C>T
XM_017008037.1:c.*817C>T (CYP4V2)	XP_016863526.1:n.*817C>T
NM_207352.4:c.*817C>T (CYP4V2) MANE Select	NP_997235.3:n.*817C>T