Canonical Allele Identifier: CA10617524

Gene: CYP4V2 KLKB1

Linked Data

• ClinVar Variation Id: 348350
• ClinVar RCV Id: RCV000314396 ; RCV000393783
• dbSNP Id: rs565805219
• gnomAD v2: 4-187132954-T-A
• gnomAD v3: 4-186211800-T-A
• gnomAD v4: 4-186211800-T-A
• MyVariant Identifiers: chr4:g.187132954T>A (hg19) ; chr4:g.186211800T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186211800T>A , CM000666.2:g.186211800T>A	GRCh38
NC_000004.11:g.187132954T>A , CM000666.1:g.187132954T>A	GRCh37
NC_000004.10:g.187369948T>A	NCBI36
NG_007965.1:g.25281T>A
NG_012095.2:g.7822T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000378802.5:c.*1159T>A (CYP4V2) MANE Select	ENSP00000368079.4:n.*1159T>A
ENST00000502665.1:n.1972T>A (CYP4V2)
ENST00000507209.5:n.7435T>A (CYP4V2)
ENST00000511608.5:c.201+2528T>A (KLKB1)
NM_207352.3:c.*1159T>A (CYP4V2)	NP_997235.3:n.*1159T>A
XM_005262935.2:c.*1159T>A (CYP4V2)	XP_005262992.1:n.*1159T>A
XM_006714184.2:c.*1159T>A (CYP4V2)	XP_006714247.1:n.*1159T>A
XM_011531931.1:c.-2909T>A (KLKB1)	XP_011530233.1:n.-2909T>A
XM_011531932.1:c.-3159T>A (KLKB1)	XP_011530234.1:n.-3159T>A
XM_011531933.1:c.-2973T>A (KLKB1)	XP_011530235.1:n.-2973T>A
XM_005262935.4:c.*1159T>A (CYP4V2)	XP_005262992.1:n.*1159T>A
XM_017008037.1:c.*1159T>A (CYP4V2)	XP_016863526.1:n.*1159T>A
NM_207352.4:c.*1159T>A (CYP4V2) MANE Select	NP_997235.3:n.*1159T>A