Canonical Allele Identifier: CA286371735
Community Standard Title: NM_001367624.2(ZNF469):c.585C>G (p.Asn195Lys)
Gene: ZNF469 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88428055C>G , CM000678.2:g.88428055C>G GRCh38
NC_000016.9:g.88494463C>G , CM000678.1:g.88494463C>G GRCh37
NC_000016.8:g.87021964C>G NCBI36
NG_012236.2:g.5585C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001367624.2:c.585C>G MANE Select NP_001354553.1:p.Asn195Lys
ENST00000565624.3:c.585C>G MANE Select ENSP00000456500.2:p.Asn195Lys
NM_001127464.2:c.585C>G NP_001120936.2:p.Asn195Lys
NM_001367624.1:c.585C>G NP_001354553.1:p.Asn195Lys
ENST00000437464.1:c.585C>G ENSP00000402343.1:p.Asn195Lys
ENST00000565624.1:c.585C>G ENSP00000456500.1:p.Asn195Lys
XM_011523386.1:c.585C>G XP_011521688.1:p.Asn195Lys
XM_011523387.1:c.585C>G XP_011521689.1:p.Asn195Lys
XM_011523388.1:c.585C>G XP_011521690.1:p.Asn195Lys
XM_017023784.1:c.585C>G XP_016879273.1:p.Asn195Lys
XM_017023785.1:c.585C>G XP_016879274.1:p.Asn195Lys
XR_002957934.1:n.250+1909G>C