Canonical Allele Identifier: CA4108889
Gene: FAM20C HGNC NCBI

Linked Data

ClinVar Variation Id: 284086
ClinVar RCV Id: RCV000398275
dbSNP Id: rs567930512
ExAC: 7:193373 C / A
gnomAD v2: 7-193373-C-A
gnomAD v3: 7-193373-C-A
gnomAD v4: 7-193373-C-A
MyVariant Identifiers: chr7:g.193373C>A (hg19) chr7:g.193373C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.193373C>A , CM000669.2:g.193373C>A GRCh38
NC_000007.13:g.193373C>A , CM000669.1:g.193373C>A GRCh37
NC_000007.12:g.288456C>A NCBI36
NG_033970.1:g.5405C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000313766.6:c.174C>A MANE Select ENSP00000322323.5:p.Pro58=
ENST00000313766.5:c.174C>A ENSP00000322323.5:p.Pro58=
NM_020223.3:c.174C>A NP_064608.2:p.Pro58=
XM_011515457.1:c.174C>A XP_011513759.1:p.Pro58=
XR_242097.3:n.400C>A
XM_017012450.1:c.174C>A XP_016867939.1:p.Pro58=
XM_017012451.1:c.174C>A XP_016867940.1:p.Pro58=
XM_017012452.1:c.174C>A XP_016867941.1:p.Pro58=
XM_017012453.1:c.174C>A XP_016867942.1:p.Pro58=
XM_017012454.1:c.174C>A XP_016867943.1:p.Pro58=
XR_001744837.1:n.400C>A
NM_020223.4:c.174C>A MANE Select NP_064608.2:p.Pro58=
Search 100 bp 5'
Search 100 bp 3'