Canonical Allele Identifier: CA358947521
Gene: CYP4V2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1041927
ClinVar RCV Id: RCV001345802
dbSNP Id: rs1736169852
gnomAD v4: 4-186197064-C-T
MyVariant Identifiers: chr4:g.187118218C>T (hg19) chr4:g.186197064C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186197064C>T , CM000666.2:g.186197064C>T GRCh38
NC_000004.11:g.187118218C>T , CM000666.1:g.187118218C>T GRCh37
NC_000004.10:g.187355212C>T NCBI36
NG_007965.1:g.10545C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.538C>T MANE Select ENSP00000368079.4:p.His180Tyr
ENST00000378802.4:c.538C>T ENSP00000368079.4:p.His180Tyr
ENST00000507209.5:n.977C>T
NM_207352.3:c.538C>T NP_997235.3:p.His180Tyr
XM_005262935.2:c.538C>T XP_005262992.1:p.His180Tyr
XM_006714184.2:c.142C>T XP_006714247.1:p.His48Tyr
XM_005262935.4:c.538C>T XP_005262992.1:p.His180Tyr
XM_017008037.1:c.142C>T XP_016863526.1:p.His48Tyr
NM_207352.4:c.538C>T MANE Select NP_997235.3:p.His180Tyr
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