Canonical Allele Identifier: CA9262873
Gene: NOTCH3 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.15174125C>G
GRCh37 chr19:g.15284936C>G
Revel Score:
ENST00000263388 (MANE Select) 0.612
gnomAD v2:
19:15284936 C / G
gnomAD v3:
19:15174125 C / G
gnomAD v4:
chr19-15174125-C-G
Joint Max Group AF 0.01592921 (AFR)
Genomes Max Group AF 0.01500717 (AFR)
Exomes Max Group AF 0.01637734 (AFR)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.4679G>C MANE Select ENSP00000263388.1:p.Arg1560Pro
ENST00000263388.6:c.4679G>C ENSP00000263388.1:p.Arg1560Pro
NM_000435.2:c.4679G>C NP_000426.2:p.Arg1560Pro
XM_005259924.3:c.4523G>C XP_005259981.1:p.Arg1508Pro
XM_005259924.4:c.4523G>C XP_005259981.1:p.Arg1508Pro
NM_000435.3:c.4679G>C MANE Select NP_000426.2:p.Arg1560Pro
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