Canonical Allele Identifier: CA121340
Gene: PHF6 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 11069
ClinVar RCV Id: RCV000011818
dbSNP Id: rs104894919

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.134415055A>G , CM000685.2:g.134415055A>G GRCh38
NC_000023.10:g.133549085A>G , CM000685.1:g.133549085A>G GRCh37
NC_000023.9:g.133376751A>G NCBI36
NG_008886.1:g.46744A>G , LRG_629:g.46744A>G

Transcript Alleles

HGVS Amino-acid change
NM_001015877.1:c.769A>G , LRG_629t1:c.769A>G NP_001015877.1:p.Arg257Gly
NM_032335.3:c.772A>G , LRG_629t2:c.772A>G NP_115711.2:p.Arg258Gly
NM_032458.2:c.769A>G VV NP_115834.1:p.Arg257Gly
ENST00000332070.7:c.769A>G ENSP00000329097.3:p.Arg257Gly
ENST00000370799.5:c.772A>G ENSP00000359835.1:p.Arg258Gly
ENST00000370800.4:c.772A>G ENSP00000359836.4:p.Arg258Gly
ENST00000370803.7:c.769A>G ENSP00000359839.3:p.Arg257Gly
ENST00000625464.2:c.772A>G ENSP00000487420.1:p.Arg258Gly