Canonical Allele Identifier: CA9263879
Gene: NOTCH3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1446857
ClinVar RCV Id: RCV001996642
dbSNP Id: rs142492710
ExAC: 19:15302983 C / T
gnomAD v2: 19-15302983-C-T
gnomAD v4: 19-15192172-C-T
MyVariant Identifiers: chr19:g.15302983C>T (hg19) chr19:g.15192172C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15192172C>T , CM000681.2:g.15192172C>T GRCh38
NC_000019.9:g.15302983C>T , CM000681.1:g.15302983C>T GRCh37
NC_000019.8:g.15163983C>T NCBI36
NG_009819.1:g.13810G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.467G>A MANE Select ENSP00000263388.1:p.Arg156Gln
ENST00000263388.6:c.467G>A ENSP00000263388.1:p.Arg156Gln
ENST00000601011.1:c.464G>A ENSP00000473138.1:p.Arg155Gln
NM_000435.2:c.467G>A NP_000426.2:p.Arg156Gln
XM_005259924.3:c.467G>A XP_005259981.1:p.Arg156Gln
XM_005259924.4:c.467G>A XP_005259981.1:p.Arg156Gln
NM_000435.3:c.467G>A MANE Select NP_000426.2:p.Arg156Gln
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