Canonical Allele Identifier: CA397125708
Community Standard Title: NM_001367624.2(ZNF469):c.10106G>C (p.Arg3369Pro)
Gene: ZNF469 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88437576G>C , CM000678.2:g.88437576G>C GRCh38
NC_000016.9:g.88503984G>C , CM000678.1:g.88503984G>C GRCh37
NC_000016.8:g.87031485G>C NCBI36
NG_012236.2:g.15106G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001367624.2:c.10106G>C MANE Select NP_001354553.1:p.Arg3369Pro
ENST00000565624.3:c.10106G>C MANE Select ENSP00000456500.2:p.Arg3369Pro
NM_001127464.2:c.10022G>C NP_001120936.2:p.Arg3341Pro
NM_001367624.1:c.10106G>C NP_001354553.1:p.Arg3369Pro
ENST00000437464.1:c.10022G>C ENSP00000402343.1:p.Arg3341Pro
ENST00000565624.1:c.10106G>C ENSP00000456500.1:p.Arg3369Pro
XM_011523386.1:c.10106G>C XP_011521688.1:p.Arg3369Pro
XM_011523387.1:c.10106G>C XP_011521689.1:p.Arg3369Pro
XM_011523388.1:c.10106G>C XP_011521690.1:p.Arg3369Pro
XM_017023784.1:c.10106G>C XP_016879273.1:p.Arg3369Pro
XM_017023785.1:c.10106G>C XP_016879274.1:p.Arg3369Pro