Canonical Allele Identifier: CA1071984930
Gene: CYP4V2 HGNC NCBI

Linked Data

dbSNP Id: rs1736077918
gnomAD v3: 4-186194304-T-A
gnomAD v4: 4-186194304-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186194304T>A , CM000666.2:g.186194304T>A GRCh38
NC_000004.11:g.187115458T>A , CM000666.1:g.187115458T>A GRCh37
NC_000004.10:g.187352452T>A NCBI36
NG_007965.1:g.7785T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.215-196T>A MANE Select ENSP00000368079.4:n.215-196T>A
ENST00000378802.4:c.215-196T>A ENSP00000368079.4:n.215-196T>A
NM_207352.3:c.215-196T>A NP_997235.3:n.215-196T>A
XM_005262935.2:c.215-196T>A XP_005262992.1:n.215-196T>A
XM_005262935.4:c.215-196T>A XP_005262992.1:n.215-196T>A
XM_017008037.1:c.-96-196T>A XP_016863526.1:n.-96-196T>A
NM_207352.4:c.215-196T>A MANE Select NP_997235.3:n.215-196T>A
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