Canonical Allele Identifier: CA3162901

Gene: CYP4V2 KLKB1

Linked Data

• dbSNP Id: rs763092047
• ExAC: 4:187131801 T / C
• gnomAD v2: 4-187131801-T-C
• gnomAD v4: 4-186210647-T-C
• MyVariant Identifiers: chr4:g.187131801T>C (hg19) ; chr4:g.186210647T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186210647T>C , CM000666.2:g.186210647T>C	GRCh38
NC_000004.11:g.187131801T>C , CM000666.1:g.187131801T>C	GRCh37
NC_000004.10:g.187368795T>C	NCBI36
NG_007965.1:g.24128T>C
NG_012095.2:g.6669T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000378802.5:c.*6T>C (CYP4V2) MANE Select	ENSP00000368079.4:n.*6T>C
ENST00000378802.4:c.*6T>C (CYP4V2)	ENSP00000368079.4:n.*6T>C
ENST00000502665.1:n.819T>C (CYP4V2)
ENST00000507209.5:n.6282T>C (CYP4V2)
ENST00000511608.5:c.201+1375T>C (KLKB1)
ENST00000513354.5:n.674T>C (CYP4V2)
NM_207352.3:c.*6T>C (CYP4V2)	NP_997235.3:n.*6T>C
XM_005262935.2:c.*6T>C (CYP4V2)	XP_005262992.1:n.*6T>C
XM_006714184.2:c.*6T>C (CYP4V2)	XP_006714247.1:n.*6T>C
XM_005262935.4:c.*6T>C (CYP4V2)	XP_005262992.1:n.*6T>C
XM_017008037.1:c.*6T>C (CYP4V2)	XP_016863526.1:n.*6T>C
NM_207352.4:c.*6T>C (CYP4V2) MANE Select	NP_997235.3:n.*6T>C