Canonical Allele Identifier: CA9415017
Gene: FAM98C HGNC NCBI
ClinVar Variation:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38407003C>T , CM000681.2:g.38407003C>T GRCh38
NC_000019.9:g.38897643C>T , CM000681.1:g.38897643C>T GRCh37
NC_000019.8:g.43589483C>T NCBI36
NG_054925.1:g.8880C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252530.10:c.844C>T MANE Select ENSP00000252530.4:p.Arg282Ter
ENST00000252530.9:c.844C>T ENSP00000252530.4:p.Arg282Ter
ENST00000343358.11:c.672+1368C>T ENSP00000340348.6:n.672+1368C>T
ENST00000586372.5:n.2053C>T
ENST00000588262.5:c.443C>T ENSP00000467974.1:p.Pro148Leu
ENST00000588348.5:n.2118C>T
ENST00000589027.1:n.260C>T
NM_174905.3:c.844C>T NP_777565.3:p.Arg282Ter
XR_935748.1:n.842C>T
NM_001351675.1:c.672+1368C>T NP_001338604.1:n.672+1368C>T
XR_935748.2:n.843C>T
NM_174905.4:c.844C>T MANE Select NP_777565.3:p.Arg282Ter