Canonical Allele Identifier: CA366525130
Gene: FAM20C HGNC NCBI

Linked Data

ClinVar Variation Id: 1717647
ClinVar RCV Id: RCV002297672
dbSNP Id: rs1179705441
COSMIC: COSM1206305
MyVariant Identifiers: chr7:g.295851A>G (hg19) chr7:g.255885A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.255885A>G , CM000669.2:g.255885A>G GRCh38
NC_000007.13:g.295851A>G , CM000669.1:g.295851A>G GRCh37
NG_033970.1:g.65521A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000313766.6:c.1109A>G MANE Select ENSP00000322323.5:p.Tyr370Cys
ENST00000313766.5:c.1109A>G ENSP00000322323.5:p.Tyr370Cys
ENST00000515795.1:n.766A>G
NM_020223.3:c.1109A>G NP_064608.2:p.Tyr370Cys
XR_242097.3:n.1256A>G
XM_017012450.1:c.1370A>G XP_016867939.1:p.Tyr457Cys
XM_017012451.1:c.1367A>G XP_016867940.1:p.Tyr456Cys
XM_017012455.2:c.407A>G XP_016867944.1:p.Tyr136Cys
NM_020223.4:c.1109A>G MANE Select NP_064608.2:p.Tyr370Cys
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