Canonical Allele Identifier: CA557054533
Gene: CYP4V2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1936127
ClinVar RCV Id: RCV002657936
dbSNP Id: rs1455954133

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186205181T>C , CM000666.2:g.186205181T>C GRCh38
NC_000004.11:g.187126335T>C , CM000666.1:g.187126335T>C GRCh37
NC_000004.10:g.187363329T>C NCBI36
NG_007965.1:g.18662T>C
NG_012095.2:g.1203T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.988-19T>C MANE Select ENSP00000368079.4:n.988-19T>C
ENST00000378802.4:c.988-19T>C ENSP00000368079.4:n.988-19T>C
ENST00000502665.1:n.223-19T>C
ENST00000507209.5:n.5667T>C
ENST00000513354.5:n.78-19T>C
NM_207352.3:c.988-19T>C NP_997235.3:n.988-19T>C
XM_005262935.2:c.988-19T>C XP_005262992.1:n.988-19T>C
XM_006714184.2:c.592-19T>C XP_006714247.1:n.592-19T>C
XM_005262935.4:c.988-19T>C XP_005262992.1:n.988-19T>C
XM_017008037.1:c.592-19T>C XP_016863526.1:n.592-19T>C
NM_207352.4:c.988-19T>C MANE Select NP_997235.3:n.988-19T>C