Canonical Allele Identifier: CA9262874
Gene: NOTCH3 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.15174125C>T
GRCh37 chr19:g.15284936C>T
Revel Score:
ENST00000263388 (MANE Select) 0.419
gnomAD v2:
19:15284936 C / T
gnomAD v3:
19:15174125 C / T
gnomAD v4:
chr19-15174125-C-T
Joint Max Group AF 0.00002556 (AFR)
Genomes Max Group AF 0.00003248 (AFR)
ClinVar RCV:
RCV003406872
ClinVar Variation:
2649432
dbSNP:
78501403
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15174125C>T , CM000681.2:g.15174125C>T GRCh38
NC_000019.9:g.15284936C>T , CM000681.1:g.15284936C>T GRCh37
NC_000019.8:g.15145936C>T NCBI36
NG_009819.1:g.31857G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.4679G>A MANE Select ENSP00000263388.1:p.Arg1560Gln
ENST00000263388.6:c.4679G>A ENSP00000263388.1:p.Arg1560Gln
NM_000435.2:c.4679G>A NP_000426.2:p.Arg1560Gln
XM_005259924.3:c.4523G>A XP_005259981.1:p.Arg1508Gln
XM_005259924.4:c.4523G>A XP_005259981.1:p.Arg1508Gln
NM_000435.3:c.4679G>A MANE Select NP_000426.2:p.Arg1560Gln
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