Canonical Allele Identifier: CA8638555
Gene: NGFR HGNC NCBI
NGFR-AS1 HGNC NCBI
COSMIC:
COSM4989186 (not active)
MyVariant.info:
GRCh38 chr17:g.49510457C>T
GRCh37 chr17:g.47587819C>T
Revel Score:
ENST00000172229 (MANE Select) 0.224
ENST00000504201 0.224
gnomAD v2:
17:47587819 C / T
gnomAD v3:
17:49510457 C / T
gnomAD v4:
chr17-49510457-C-T
Joint Max Group AF 0.1051492 (EAS)
Genomes Max Group AF 0.10292617 (EAS)
Exomes Max Group AF 0.10463969 (EAS)
dbSNP:
2072446
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.49510457C>T , CM000679.2:g.49510457C>T GRCh38
NC_000017.10:g.47587819C>T , CM000679.1:g.47587819C>T GRCh37
NC_000017.9:g.44942818C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000172229.8:c.614C>T (NGFR) MANE Select ENSP00000172229.3:p.Ser205Leu
ENST00000172229.7:c.614C>T (NGFR) ENSP00000172229.3:p.Ser205Leu
ENST00000504201.1:c.332C>T (NGFR) ENSP00000421731.1:p.Ser111Leu
NM_002507.3:c.614C>T (NGFR) NP_002498.1:p.Ser205Leu
NR_103773.1:n.377+526G>A (NGFR-AS1)
NM_002507.4:c.614C>T (NGFR) MANE Select NP_002498.1:p.Ser205Leu
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