Canonical Allele Identifier: CA287751384
Gene: NTN1 HGNC NCBI
COSMIC:
COSN6662617 (not active)
MyVariant.info:
GRCh38 chr17:g.9040612T>C
GRCh37 chr17:g.8943929T>C
gnomAD v2:
17:8943929 T / C
gnomAD v3:
17:9040612 T / C
gnomAD v4:
chr17-9040612-T-C
Joint Max Group AF 0.94354868 (EAS)
Genomes Max Group AF 0.94354868 (EAS)
dbSNP:
8076457
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.9040612T>C , CM000679.2:g.9040612T>C GRCh38
NC_000017.10:g.8943929T>C , CM000679.1:g.8943929T>C GRCh37
NC_000017.9:g.8884654T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000173229.7:c.1018+17221T>C MANE Select ENSP00000173229.2:n.1018+17221T>C
ENST00000173229.6:c.1018+17221T>C ENSP00000173229.2:n.1018+17221T>C
NM_004822.2:c.1018+17221T>C NP_004813.2:n.1018+17221T>C
XM_006721595.2:c.1018+17221T>C XP_006721658.1:n.1018+17221T>C
XM_006721595.3:c.1018+17221T>C XP_006721658.1:n.1018+17221T>C
NM_004822.3:c.1018+17221T>C MANE Select NP_004813.2:n.1018+17221T>C
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