Canonical Allele Identifier: CA557053368
Gene: CYP4V2 HGNC NCBI

Linked Data

dbSNP Id: rs1190562381
gnomAD v2: 4-187115671-A-AT
gnomAD v4: 4-186194517-A-AT
MyVariant Identifiers: chr4:g.187115671_187115672insT (hg19) chr4:g.186194517_186194518insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186194519dup , CM000666.2:g.186194519dup GRCh38
NC_000004.11:g.187115673dup , CM000666.1:g.187115673dup GRCh37
NC_000004.10:g.187352667dup NCBI36
NG_007965.1:g.8000dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.234dup MANE Select ENSP00000368079.4:p.Glu79Ter
ENST00000378802.4:c.234dup ENSP00000368079.4:p.Glu79Ter
NM_207352.3:c.234dup NP_997235.3:p.Glu79Ter
XM_005262935.2:c.234dup XP_005262992.1:p.Glu79Ter
XM_005262935.4:c.234dup XP_005262992.1:p.Glu79Ter
XM_017008037.1:c.-77dup XP_016863526.1:n.-77dup
NM_207352.4:c.234dup MANE Select NP_997235.3:p.Glu79Ter
Search 100 bp 5'
Search 100 bp 3'