Canonical Allele Identifier: CA9263877
Gene: NOTCH3 HGNC NCBI

Linked Data

ClinVar Variation Id: 447851
ClinVar RCV Id: RCV000518641 RCV002527501 RCV001253585
dbSNP Id: rs544773641
ExAC: 19:15302978 C / T
gnomAD v2: 19-15302978-C-T
gnomAD v3: 19-15192167-C-T
gnomAD v4: 19-15192167-C-T
MyVariant Identifiers: chr19:g.15302978C>T (hg19) chr19:g.15192167C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15192167C>T , CM000681.2:g.15192167C>T GRCh38
NC_000019.9:g.15302978C>T , CM000681.1:g.15302978C>T GRCh37
NC_000019.8:g.15163978C>T NCBI36
NG_009819.1:g.13815G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.472G>A MANE Select ENSP00000263388.1:p.Asp158Asn
ENST00000263388.6:c.472G>A ENSP00000263388.1:p.Asp158Asn
ENST00000601011.1:c.469G>A ENSP00000473138.1:p.Asp157Asn
NM_000435.2:c.472G>A NP_000426.2:p.Asp158Asn
XM_005259924.3:c.472G>A XP_005259981.1:p.Asp158Asn
XM_005259924.4:c.472G>A XP_005259981.1:p.Asp158Asn
NM_000435.3:c.472G>A MANE Select NP_000426.2:p.Asp158Asn
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