Canonical Allele Identifier: CA112138962

Gene: CYP4V2 KLKB1

Linked Data

• dbSNP Id: rs560864517
• gnomAD v3: 4-186212659-C-T
• gnomAD v4: 4-186212659-C-T
• MyVariant Identifiers: chr4:g.187133813C>T (hg19) ; chr4:g.186212659C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186212659C>T , CM000666.2:g.186212659C>T	GRCh38
NC_000004.11:g.187133813C>T , CM000666.1:g.187133813C>T	GRCh37
NC_000004.10:g.187370807C>T	NCBI36
NG_007965.1:g.26140C>T
NG_012095.2:g.8681C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000378802.5:c.*2018C>T (CYP4V2) MANE Select	ENSP00000368079.4:n.*2018C>T
ENST00000502665.1:n.2831C>T (CYP4V2)
ENST00000507209.5:n.8294C>T (CYP4V2)
ENST00000511608.5:c.201+3387C>T (KLKB1)
NM_207352.3:c.*2018C>T (CYP4V2)	NP_997235.3:n.*2018C>T
XM_005262935.2:c.*2018C>T (CYP4V2)	XP_005262992.1:n.*2018C>T
XM_006714184.2:c.*2018C>T (CYP4V2)	XP_006714247.1:n.*2018C>T
XM_011531931.1:c.-2050C>T (KLKB1)	XP_011530233.1:n.-2050C>T
XM_011531932.1:c.-2300C>T (KLKB1)	XP_011530234.1:n.-2300C>T
XM_011531933.1:c.-2114C>T (KLKB1)	XP_011530235.1:n.-2114C>T
XM_005262935.4:c.*2018C>T (CYP4V2)	XP_005262992.1:n.*2018C>T
XM_017008037.1:c.*2018C>T (CYP4V2)	XP_016863526.1:n.*2018C>T
NM_207352.4:c.*2018C>T (CYP4V2) MANE Select	NP_997235.3:n.*2018C>T