Canonical Allele Identifier: CA358946506
Gene: CYP4V2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1906530
ClinVar RCV Id: RCV002586980
dbSNP Id: rs1245358016
gnomAD v3: 4-186191902-G-A
gnomAD v4: 4-186191902-G-A
MyVariant Identifiers: chr4:g.187113056G>A (hg19) chr4:g.186191902G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186191902G>A , CM000666.2:g.186191902G>A GRCh38
NC_000004.11:g.187113056G>A , CM000666.1:g.187113056G>A GRCh37
NC_000004.10:g.187350050G>A NCBI36
NG_007965.1:g.5383G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.79G>A MANE Select ENSP00000368079.4:p.Ala27Thr
ENST00000378802.4:c.79G>A ENSP00000368079.4:p.Ala27Thr
NM_207352.3:c.79G>A NP_997235.3:p.Ala27Thr
XM_005262935.2:c.79G>A XP_005262992.1:p.Ala27Thr
XM_005262935.4:c.79G>A XP_005262992.1:p.Ala27Thr
XM_017008037.1:c.-232G>A XP_016863526.1:n.-232G>A
NM_207352.4:c.79G>A MANE Select NP_997235.3:p.Ala27Thr
Search 100 bp 5'
Search 100 bp 3'