Canonical Allele Identifier: CA3162729
Gene: CYP4V2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2794912
ClinVar RCV Id: RCV003675112
dbSNP Id: rs754614260
ExAC: 4:187126434 TC / T
gnomAD v2: 4-187126434-TC-T
gnomAD v3: 4-186205280-TC-T
gnomAD v4: 4-186205280-TC-T
MyVariant Identifiers: chr4:g.187126435del (hg19) chr4:g.186205281del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186205281del , CM000666.2:g.186205281del GRCh38
NC_000004.11:g.187126435del , CM000666.1:g.187126435del GRCh37
NC_000004.10:g.187363429del NCBI36
NG_007965.1:g.18762del
NG_012095.2:g.1303del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.1069del MANE Select ENSP00000368079.4:p.His357MetfsTer16
ENST00000378802.4:c.1069del ENSP00000368079.4:p.His357MetfsTer16
ENST00000502665.1:n.304del
ENST00000507209.5:n.5767del
ENST00000513354.5:n.159del
NM_207352.3:c.1069del NP_997235.3:p.His357MetfsTer16
XM_005262935.2:c.1069del XP_005262992.1:p.His357MetfsTer16
XM_006714184.2:c.673del XP_006714247.1:p.His225MetfsTer16
XM_005262935.4:c.1069del XP_005262992.1:p.His357MetfsTer16
XM_017008037.1:c.673del XP_016863526.1:p.His225MetfsTer16
NM_207352.4:c.1069del MANE Select NP_997235.3:p.His357MetfsTer16
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