Canonical Allele Identifier: CA1071975470

Gene: CYP4V2 KLKB1

Linked Data

• gnomAD v3: 4-186211416-T-C
• gnomAD v4: 4-186211416-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186211416T>C , CM000666.2:g.186211416T>C	GRCh38
NC_000004.11:g.187132570T>C , CM000666.1:g.187132570T>C	GRCh37
NC_000004.10:g.187369564T>C	NCBI36
NG_007965.1:g.24897T>C
NG_012095.2:g.7438T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.*775T>C (CYP4V2) MANE Select	ENSP00000368079.4:n.*775T>C
ENST00000502665.1:n.1588T>C (CYP4V2)
ENST00000507209.5:n.7051T>C (CYP4V2)
ENST00000511608.5:c.201+2144T>C (KLKB1)
NM_207352.3:c.*775T>C (CYP4V2)	NP_997235.3:n.*775T>C
XM_005262935.2:c.*775T>C (CYP4V2)	XP_005262992.1:n.*775T>C
XM_006714184.2:c.*775T>C (CYP4V2)	XP_006714247.1:n.*775T>C
XM_011531931.1:c.-3293T>C (KLKB1)	XP_011530233.1:n.-3293T>C
XM_011531932.1:c.-3543T>C (KLKB1)	XP_011530234.1:n.-3543T>C
XM_011531933.1:c.-3357T>C (KLKB1)	XP_011530235.1:n.-3357T>C
XM_005262935.4:c.*775T>C (CYP4V2)	XP_005262992.1:n.*775T>C
XM_017008037.1:c.*775T>C (CYP4V2)	XP_016863526.1:n.*775T>C
NM_207352.4:c.*775T>C (CYP4V2) MANE Select	NP_997235.3:n.*775T>C