Canonical Allele Identifier: CA572353363
Gene: FAM20C HGNC NCBI

Linked Data

dbSNP Id: rs1257846268
gnomAD v2: 7-295741-T-C
gnomAD v3: 7-255775-T-C
gnomAD v4: 7-255775-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.255775T>C , CM000669.2:g.255775T>C GRCh38
NC_000007.13:g.295741T>C , CM000669.1:g.295741T>C GRCh37
NG_033970.1:g.65411T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000313766.6:c.1073-74T>C MANE Select ENSP00000322323.5:n.1073-74T>C
ENST00000313766.5:c.1073-74T>C ENSP00000322323.5:n.1073-74T>C
ENST00000515795.1:n.730-74T>C
NM_020223.3:c.1073-74T>C NP_064608.2:n.1073-74T>C
XR_242097.3:n.1220-74T>C
XM_017012450.1:c.1334-74T>C XP_016867939.1:n.1334-74T>C
XM_017012451.1:c.1331-74T>C XP_016867940.1:n.1331-74T>C
XM_017012455.2:c.371-74T>C XP_016867944.1:n.371-74T>C
NM_020223.4:c.1073-74T>C MANE Select NP_064608.2:n.1073-74T>C