Canonical Allele Identifier: CA250012
Gene: FAM20C HGNC NCBI

Linked Data

ClinVar Variation Id: 1024
ClinVar RCV Id: RCV000001079
dbSNP Id: rs796051849
MyVariant Identifiers: chr7:g.295905T>G (hg19) chr7:g.255939T>G (hg38)
PubMed: PMID:14564151 PMID:17924334
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.255939T>G , CM000669.2:g.255939T>G GRCh38
NC_000007.13:g.295905T>G , CM000669.1:g.295905T>G GRCh37
NG_033970.1:g.65575T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000313766.6:c.1163T>G MANE Select ENSP00000322323.5:p.Leu388Arg
ENST00000313766.5:c.1163T>G ENSP00000322323.5:p.Leu388Arg
ENST00000515795.1:n.820T>G
NM_020223.3:c.1163T>G NP_064608.2:p.Leu388Arg
XR_242097.3:n.1310T>G
XM_017012450.1:c.1424T>G XP_016867939.1:p.Leu475Arg
XM_017012451.1:c.1421T>G XP_016867940.1:p.Leu474Arg
XM_017012455.2:c.461T>G XP_016867944.1:p.Leu154Arg
NM_020223.4:c.1163T>G MANE Select NP_064608.2:p.Leu388Arg
Search 100 bp 5'
Search 100 bp 3'