Canonical Allele Identifier: CA837007389
Gene: FAM20C HGNC NCBI

Linked Data

dbSNP Id: rs1475216459
gnomAD v2: 7-295743-G-T
gnomAD v3: 7-255777-G-T
gnomAD v4: 7-255777-G-T
MyVariant Identifiers: chr7:g.295743G>T (hg19) chr7:g.255777G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.255777G>T , CM000669.2:g.255777G>T GRCh38
NC_000007.13:g.295743G>T , CM000669.1:g.295743G>T GRCh37
NG_033970.1:g.65413G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000313766.6:c.1073-72G>T MANE Select ENSP00000322323.5:n.1073-72G>T
ENST00000313766.5:c.1073-72G>T ENSP00000322323.5:n.1073-72G>T
ENST00000515795.1:n.730-72G>T
NM_020223.3:c.1073-72G>T NP_064608.2:n.1073-72G>T
XR_242097.3:n.1220-72G>T
XM_017012450.1:c.1334-72G>T XP_016867939.1:n.1334-72G>T
XM_017012451.1:c.1331-72G>T XP_016867940.1:n.1331-72G>T
XM_017012455.2:c.371-72G>T XP_016867944.1:n.371-72G>T
NM_020223.4:c.1073-72G>T MANE Select NP_064608.2:n.1073-72G>T
Search 100 bp 5'
Search 100 bp 3'