Canonical Allele Identifier: CA557395884
Gene: CYP4V2 HGNC NCBI

Linked Data

dbSNP Id: rs1561428943
gnomAD v2: 4-187112946-CGGAGTGCACCCCGCGGCCGCCA-C
gnomAD v4: 4-186191792-CGGAGTGCACCCCGCGGCCGCCA-C
MyVariant Identifiers: chr4:g.187112947_187112968del (hg19) chr4:g.186191793_186191814del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186191794_186191815del , CM000666.2:g.186191794_186191815del GRCh38
NC_000004.11:g.187112948_187112969del , CM000666.1:g.187112948_187112969del GRCh37
NC_000004.10:g.187349942_187349963del NCBI36
NG_007965.1:g.5275_5296del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.-30_-9del MANE Select ENSP00000368079.4:n.-30_-9del
ENST00000378802.4:c.-30_-9del ENSP00000368079.4:n.-30_-9del
NM_207352.3:c.-30_-9del NP_997235.3:n.-30_-9del
XM_005262935.2:c.-30_-9del XP_005262992.1:n.-30_-9del
XM_005262935.4:c.-30_-9del XP_005262992.1:n.-30_-9del
XM_017008037.1:c.-340_-319del XP_016863526.1:n.-340_-319del
NM_207352.4:c.-30_-9del MANE Select NP_997235.3:n.-30_-9del
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