Canonical Allele Identifier: CA1071974597

Gene: CYP4V2 KLKB1

Linked Data

• dbSNP Id: rs1736663422
• gnomAD v3: 4-186210257-T-C
• gnomAD v4: 4-186210257-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186210257T>C , CM000666.2:g.186210257T>C	GRCh38
NC_000004.11:g.187131411T>C , CM000666.1:g.187131411T>C	GRCh37
NC_000004.10:g.187368405T>C	NCBI36
NG_007965.1:g.23738T>C
NG_012095.2:g.6279T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.1406-212T>C (CYP4V2) MANE Select	ENSP00000368079.4:n.1406-212T>C
ENST00000378802.4:c.1406-212T>C (CYP4V2)	ENSP00000368079.4:n.1406-212T>C
ENST00000502665.1:n.641-212T>C (CYP4V2)
ENST00000507209.5:n.6104-212T>C (CYP4V2)
ENST00000511608.5:c.201+985T>C (KLKB1)
ENST00000513354.5:n.496-212T>C (CYP4V2)
NM_207352.3:c.1406-212T>C (CYP4V2)	NP_997235.3:n.1406-212T>C
XM_005262935.2:c.1403-212T>C (CYP4V2)	XP_005262992.1:n.1403-212T>C
XM_006714184.2:c.1010-212T>C (CYP4V2)	XP_006714247.1:n.1010-212T>C
XM_005262935.4:c.1403-212T>C (CYP4V2)	XP_005262992.1:n.1403-212T>C
XM_017008037.1:c.1010-212T>C (CYP4V2)	XP_016863526.1:n.1010-212T>C
NM_207352.4:c.1406-212T>C (CYP4V2) MANE Select	NP_997235.3:n.1406-212T>C