Canonical Allele Identifier: CA358950261
Gene: CYP4V2 HGNC NCBI

Linked Data

dbSNP Id: rs1736618366
gnomAD v4: 4-186208964-T-A
MyVariant Identifiers: chr4:g.187130118T>A (hg19) chr4:g.186208964T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186208964T>A , CM000666.2:g.186208964T>A GRCh38
NC_000004.11:g.187130118T>A , CM000666.1:g.187130118T>A GRCh37
NC_000004.10:g.187367112T>A NCBI36
NG_007965.1:g.22445T>A
NG_012095.2:g.4986T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.1190T>A MANE Select ENSP00000368079.4:p.Leu397Ter
ENST00000378802.4:c.1190T>A ENSP00000368079.4:p.Leu397Ter
ENST00000502665.1:n.425T>A
ENST00000507209.5:n.5888T>A
ENST00000513354.5:n.280T>A
NM_207352.3:c.1190T>A NP_997235.3:p.Leu397Ter
XM_005262935.2:c.1190T>A XP_005262992.1:p.Leu397Ter
XM_006714184.2:c.794T>A XP_006714247.1:p.Leu265Ter
XM_005262935.4:c.1190T>A XP_005262992.1:p.Leu397Ter
XM_017008037.1:c.794T>A XP_016863526.1:p.Leu265Ter
NM_207352.4:c.1190T>A MANE Select NP_997235.3:p.Leu397Ter
Search 100 bp 5'
Search 100 bp 3'