Canonical Allele Identifier: CA305774823
Gene: NOTCH3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1256493
ClinVar RCV Id: RCV001663835
dbSNP Id: rs955926125
gnomAD v2: 19-15297976-C-T
gnomAD v3: 19-15187165-C-T
gnomAD v4: 19-15187165-C-T
MyVariant Identifiers: chr19:g.15297976C>T (hg19) chr19:g.15187165C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15187165C>T , CM000681.2:g.15187165C>T GRCh38
NC_000019.9:g.15297976C>T , CM000681.1:g.15297976C>T GRCh37
NC_000019.8:g.15158976C>T NCBI36
NG_009819.1:g.18817G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.1780G>A MANE Select ENSP00000263388.1:p.Gly594Ser
ENST00000263388.6:c.1780G>A ENSP00000263388.1:p.Gly594Ser
ENST00000601011.1:c.1777G>A ENSP00000473138.1:p.Gly593Ser
NM_000435.2:c.1780G>A NP_000426.2:p.Gly594Ser
XM_005259924.3:c.1780G>A XP_005259981.1:p.Gly594Ser
XM_005259924.4:c.1780G>A XP_005259981.1:p.Gly594Ser
NM_000435.3:c.1780G>A MANE Select NP_000426.2:p.Gly594Ser
Search 100 bp 5'
Search 100 bp 3'