Canonical Allele Identifier: CA2672893253
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Linked Data

gnomAD v4: 4-186212669-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186212669C>A , CM000666.2:g.186212669C>A GRCh38
NC_000004.11:g.187133823C>A , CM000666.1:g.187133823C>A GRCh37
NC_000004.10:g.187370817C>A NCBI36
NG_007965.1:g.26150C>A
NG_012095.2:g.8691C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.*2028C>A (CYP4V2) MANE Select ENSP00000368079.4:n.*2028C>A
ENST00000502665.1:n.2841C>A (CYP4V2)
ENST00000507209.5:n.8304C>A (CYP4V2)
ENST00000511608.5:c.201+3397C>A (KLKB1)
NM_207352.3:c.*2028C>A (CYP4V2) NP_997235.3:n.*2028C>A
XM_005262935.2:c.*2028C>A (CYP4V2) XP_005262992.1:n.*2028C>A
XM_006714184.2:c.*2028C>A (CYP4V2) XP_006714247.1:n.*2028C>A
XM_011531931.1:c.-2040C>A (KLKB1) XP_011530233.1:n.-2040C>A
XM_011531932.1:c.-2290C>A (KLKB1) XP_011530234.1:n.-2290C>A
XM_011531933.1:c.-2104C>A (KLKB1) XP_011530235.1:n.-2104C>A
XM_005262935.4:c.*2028C>A (CYP4V2) XP_005262992.1:n.*2028C>A
XM_017008037.1:c.*2028C>A (CYP4V2) XP_016863526.1:n.*2028C>A
NM_207352.4:c.*2028C>A (CYP4V2) MANE Select NP_997235.3:n.*2028C>A
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