Canonical Allele Identifier: CA9263592
Gene: NOTCH3 HGNC NCBI

Linked Data

dbSNP Id: rs376606994
ExAC: 19:15298120 C / T
gnomAD v2: 19-15298120-C-T
gnomAD v3: 19-15187309-C-T
gnomAD v4: 19-15187309-C-T
MyVariant Identifiers: chr19:g.15298120C>T (hg19) chr19:g.15187309C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15187309C>T , CM000681.2:g.15187309C>T GRCh38
NC_000019.9:g.15298120C>T , CM000681.1:g.15298120C>T GRCh37
NC_000019.8:g.15159120C>T NCBI36
NG_009819.1:g.18673G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.1636G>A MANE Select ENSP00000263388.1:p.Val546Met
ENST00000263388.6:c.1636G>A ENSP00000263388.1:p.Val546Met
ENST00000601011.1:c.1633G>A ENSP00000473138.1:p.Val545Met
NM_000435.2:c.1636G>A NP_000426.2:p.Val546Met
XM_005259924.3:c.1636G>A XP_005259981.1:p.Val546Met
XM_005259924.4:c.1636G>A XP_005259981.1:p.Val546Met
NM_000435.3:c.1636G>A MANE Select NP_000426.2:p.Val546Met
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