Canonical Allele Identifier: CA112139081

Gene: CYP4V2 KLKB1

Linked Data

• ClinVar Variation Id: 899861
• ClinVar RCV Id: RCV001144710 ; RCV001144709
• dbSNP Id: rs546961288
• gnomAD v2: 4-187133934-G-A
• gnomAD v3: 4-186212780-G-A
• gnomAD v4: 4-186212780-G-A
• MyVariant Identifiers: chr4:g.187133934G>A (hg19) ; chr4:g.186212780G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186212780G>A , CM000666.2:g.186212780G>A	GRCh38
NC_000004.11:g.187133934G>A , CM000666.1:g.187133934G>A	GRCh37
NC_000004.10:g.187370928G>A	NCBI36
NG_007965.1:g.26261G>A
NG_012095.2:g.8802G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.*2139G>A (CYP4V2) MANE Select	ENSP00000368079.4:n.*2139G>A
ENST00000502665.1:n.2952G>A (CYP4V2)
ENST00000507209.5:n.8415G>A (CYP4V2)
ENST00000511608.5:c.201+3508G>A (KLKB1)
NM_207352.3:c.*2139G>A (CYP4V2)	NP_997235.3:n.*2139G>A
XM_005262935.2:c.*2139G>A (CYP4V2)	XP_005262992.1:n.*2139G>A
XM_006714184.2:c.*2139G>A (CYP4V2)	XP_006714247.1:n.*2139G>A
XM_011531931.1:c.-1929G>A (KLKB1)	XP_011530233.1:n.-1929G>A
XM_011531932.1:c.-2179G>A (KLKB1)	XP_011530234.1:n.-2179G>A
XM_011531933.1:c.-1993G>A (KLKB1)	XP_011530235.1:n.-1993G>A
XM_005262935.4:c.*2139G>A (CYP4V2)	XP_005262992.1:n.*2139G>A
XM_017008037.1:c.*2139G>A (CYP4V2)	XP_016863526.1:n.*2139G>A
NM_207352.4:c.*2139G>A (CYP4V2) MANE Select	NP_997235.3:n.*2139G>A