Canonical Allele Identifier: CA9263771
Gene: NOTCH3 HGNC NCBI

Linked Data

dbSNP Id: rs750260409
ExAC: 19:15302448 C / T
gnomAD v2: 19-15302448-C-T
gnomAD v4: 19-15191637-C-T
MyVariant Identifiers: chr19:g.15302448C>T (hg19) chr19:g.15191637C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15191637C>T , CM000681.2:g.15191637C>T GRCh38
NC_000019.9:g.15302448C>T , CM000681.1:g.15302448C>T GRCh37
NC_000019.8:g.15163448C>T NCBI36
NG_009819.1:g.14345G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.823G>A MANE Select ENSP00000263388.1:p.Val275Met
ENST00000263388.6:c.823G>A ENSP00000263388.1:p.Val275Met
ENST00000601011.1:c.820G>A ENSP00000473138.1:p.Val274Met
NM_000435.2:c.823G>A NP_000426.2:p.Val275Met
XM_005259924.3:c.823G>A XP_005259981.1:p.Val275Met
XM_005259924.4:c.823G>A XP_005259981.1:p.Val275Met
NM_000435.3:c.823G>A MANE Select NP_000426.2:p.Val275Met
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