Canonical Allele Identifier: CA8007664
Community Standard Title: NM_001305018.2(ZNF747):c.276G>C (p.Lys92Asn)
Gene: ZNF747 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30534264C>G , CM000678.2:g.30534264C>G GRCh38
NC_000016.9:g.30545585C>G , CM000678.1:g.30545585C>G GRCh37
NC_000016.8:g.30453086C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001305018.2:c.276G>C MANE Select NP_001291947.1:p.Lys92Asn
ENST00000693075.1:c.276G>C MANE Select ENSP00000509633.1:p.Lys92Asn
NM_001305018.1:c.276G>C NP_001291947.1:p.Lys92Asn
NM_001305019.1:c.276G>C NP_001291948.1:p.Lys92Asn
NM_001305019.2:c.276G>C NP_001291948.1:p.Lys92Asn
NM_001305020.1:c.416G>C NP_001291949.1:p.Arg139Thr
NM_001305020.2:c.416G>C NP_001291949.1:p.Arg139Thr
NM_023931.3:c.416G>C NP_076420.1:p.Arg139Thr
NM_023931.4:c.416G>C NP_076420.1:p.Arg139Thr
ENST00000252799.3:c.416G>C ENSP00000252799.3:p.Arg139Thr
ENST00000395094.3:c.416G>C ENSP00000378528.3:p.Arg139Thr
ENST00000568028.1:c.276G>C ENSP00000457274.1:p.Lys92Asn
ENST00000568114.1:c.243G>C ENSP00000455659.1:p.Lys81Asn
ENST00000569360.1:c.276G>C ENSP00000454241.1:p.Lys92Asn