Canonical Allele Identifier: CA1071974113

Gene: CYP4V2 KLKB1

Linked Data

• dbSNP Id: rs1736641827
• gnomAD v3: 4-186209492-A-C
• gnomAD v4: 4-186209492-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186209492A>C , CM000666.2:g.186209492A>C	GRCh38
NC_000004.11:g.187130646A>C , CM000666.1:g.187130646A>C	GRCh37
NC_000004.10:g.187367640A>C	NCBI36
NG_007965.1:g.22973A>C
NG_012095.2:g.5514A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.1405+220A>C (CYP4V2) MANE Select	ENSP00000368079.4:n.1405+220A>C
ENST00000378802.4:c.1405+220A>C (CYP4V2)	ENSP00000368079.4:n.1405+220A>C
ENST00000502665.1:n.640+220A>C (CYP4V2)
ENST00000507209.5:n.6103+220A>C (CYP4V2)
ENST00000511608.5:c.201+220A>C (KLKB1)
ENST00000513354.5:n.495+220A>C (CYP4V2)
NM_207352.3:c.1405+220A>C (CYP4V2)	NP_997235.3:n.1405+220A>C
XM_005262935.2:c.1402+220A>C (CYP4V2)	XP_005262992.1:n.1402+220A>C
XM_006714184.2:c.1009+220A>C (CYP4V2)	XP_006714247.1:n.1009+220A>C
XM_005262935.4:c.1402+220A>C (CYP4V2)	XP_005262992.1:n.1402+220A>C
XM_017008037.1:c.1009+220A>C (CYP4V2)	XP_016863526.1:n.1009+220A>C
NM_207352.4:c.1405+220A>C (CYP4V2) MANE Select	NP_997235.3:n.1405+220A>C