Canonical Allele Identifier: CA3162560
Gene: CYP4V2 HGNC NCBI

Linked Data

ClinVar Variation Id: 967143
ClinVar RCV Id: RCV001241976
dbSNP Id: rs757683326
ExAC: 4:187118110 C / T
gnomAD v2: 4-187118110-C-T
gnomAD v3: 4-186196956-C-T
gnomAD v4: 4-186196956-C-T
COSMIC: COSM5866149
MyVariant Identifiers: chr4:g.187118110C>T (hg19) chr4:g.186196956C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186196956C>T , CM000666.2:g.186196956C>T GRCh38
NC_000004.11:g.187118110C>T , CM000666.1:g.187118110C>T GRCh37
NC_000004.10:g.187355104C>T NCBI36
NG_007965.1:g.10437C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.430C>T MANE Select ENSP00000368079.4:p.Arg144Cys
ENST00000378802.4:c.430C>T ENSP00000368079.4:p.Arg144Cys
ENST00000507209.5:n.869C>T
NM_207352.3:c.430C>T NP_997235.3:p.Arg144Cys
XM_005262935.2:c.430C>T XP_005262992.1:p.Arg144Cys
XM_006714184.2:c.34C>T XP_006714247.1:p.Arg12Cys
XM_005262935.4:c.430C>T XP_005262992.1:p.Arg144Cys
XM_017008037.1:c.34C>T XP_016863526.1:p.Arg12Cys
NM_207352.4:c.430C>T MANE Select NP_997235.3:p.Arg144Cys
Search 100 bp 5'
Search 100 bp 3'