Canonical Allele Identifier: CA1519892422
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Linked Data

dbSNP Id: rs1579978948

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186211211G>A , CM000666.2:g.186211211G>A GRCh38
NC_000004.11:g.187132365G>A , CM000666.1:g.187132365G>A GRCh37
NC_000004.10:g.187369359G>A NCBI36
NG_007965.1:g.24692G>A
NG_012095.2:g.7233G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.*570G>A (CYP4V2) MANE Select ENSP00000368079.4:n.*570G>A
ENST00000502665.1:n.1383G>A (CYP4V2)
ENST00000507209.5:n.6846G>A (CYP4V2)
ENST00000511608.5:c.201+1939G>A (KLKB1)
NM_207352.3:c.*570G>A (CYP4V2) NP_997235.3:n.*570G>A
XM_005262935.2:c.*570G>A (CYP4V2) XP_005262992.1:n.*570G>A
XM_006714184.2:c.*570G>A (CYP4V2) XP_006714247.1:n.*570G>A
XM_011531931.1:c.-3498G>A (KLKB1) XP_011530233.1:n.-3498G>A
XM_011531932.1:c.-3748G>A (KLKB1) XP_011530234.1:n.-3748G>A
XM_011531933.1:c.-3562G>A (KLKB1) XP_011530235.1:n.-3562G>A
XM_005262935.4:c.*570G>A (CYP4V2) XP_005262992.1:n.*570G>A
XM_017008037.1:c.*570G>A (CYP4V2) XP_016863526.1:n.*570G>A
NM_207352.4:c.*570G>A (CYP4V2) MANE Select NP_997235.3:n.*570G>A