Canonical Allele Identifier: CA3162641
Gene: CYP4V2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1922678
ClinVar RCV Id: RCV003308183 RCV002634414
dbSNP Id: rs372835618
ExAC: 4:187120176 T / C
gnomAD v2: 4-187120176-T-C
gnomAD v3: 4-186199022-T-C
gnomAD v4: 4-186199022-T-C
MyVariant Identifiers: chr4:g.187120176T>C (hg19) chr4:g.186199022T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186199022T>C , CM000666.2:g.186199022T>C GRCh38
NC_000004.11:g.187120176T>C , CM000666.1:g.187120176T>C GRCh37
NC_000004.10:g.187357170T>C NCBI36
NG_007965.1:g.12503T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.740T>C MANE Select ENSP00000368079.4:p.Met247Thr
ENST00000378802.4:c.740T>C ENSP00000368079.4:p.Met247Thr
ENST00000507209.5:n.1581T>C
NM_207352.3:c.740T>C NP_997235.3:p.Met247Thr
XM_005262935.2:c.740T>C XP_005262992.1:p.Met247Thr
XM_006714184.2:c.344T>C XP_006714247.1:p.Met115Thr
XM_005262935.4:c.740T>C XP_005262992.1:p.Met247Thr
XM_017008037.1:c.344T>C XP_016863526.1:p.Met115Thr
NM_207352.4:c.740T>C MANE Select NP_997235.3:p.Met247Thr
Search 100 bp 5'
Search 100 bp 3'