Canonical Allele Identifier: CA1519910330
Gene: CYP4V2 HGNC NCBI

Linked Data

dbSNP Id: rs1735984569
gnomAD v4: 4-186191709-GA-G
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186191710del , CM000666.2:g.186191710del GRCh38
NC_000004.11:g.187112864del , CM000666.1:g.187112864del GRCh37
NC_000004.10:g.187349858del NCBI36
NG_007965.1:g.5191del

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.-114del MANE Select ENSP00000368079.4:n.-114del
ENST00000378802.4:c.-114del ENSP00000368079.4:n.-114del
NM_207352.3:c.-114del NP_997235.3:n.-114del
XM_005262935.2:c.-114del XP_005262992.1:n.-114del
XM_017008037.1:c.-424del XP_016863526.1:n.-424del
NM_207352.4:c.-114del MANE Select NP_997235.3:n.-114del
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