Canonical Allele Identifier: CA152226803
Gene: FAM20C HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.195685T>C
GRCh37 chr7:g.195685T>C
Revel Score:
ENST00000313766 (MANE Select) 0.495
gnomAD v2:
7:195685 T / C
gnomAD v3:
7:195685 T / C
gnomAD v4:
chr7-195685-T-C
Joint Max Group AF 0.00002551 (AFR)
Genomes Max Group AF 0.00001919 (AFR)
Exomes Max Group AF 0.00000991 (AFR)
ClinVar RCV:
RCV002901056
ClinVar Variation:
2308744
dbSNP:
796051874
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.195685T>C , CM000669.2:g.195685T>C GRCh38
NC_000007.13:g.195685T>C , CM000669.1:g.195685T>C GRCh37
NC_000007.12:g.290768T>C NCBI36
NG_033970.1:g.7717T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000313766.6:c.737T>C MANE Select ENSP00000322323.5:p.Ile246Thr
ENST00000313766.5:c.737T>C ENSP00000322323.5:p.Ile246Thr
ENST00000471328.1:n.61T>C
ENST00000477004.1:n.218T>C
NM_020223.3:c.737T>C NP_064608.2:p.Ile246Thr
XM_011515457.1:c.737T>C XP_011513759.1:p.Ile246Thr
XR_242097.3:n.963T>C
XM_017012450.1:c.737T>C XP_016867939.1:p.Ile246Thr
XM_017012451.1:c.737T>C XP_016867940.1:p.Ile246Thr
XM_017012452.1:c.737T>C XP_016867941.1:p.Ile246Thr
XM_017012453.1:c.737T>C XP_016867942.1:p.Ile246Thr
XM_017012454.1:c.737T>C XP_016867943.1:p.Ile246Thr
XR_001744837.1:n.963T>C
NM_020223.4:c.737T>C MANE Select NP_064608.2:p.Ile246Thr
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