Canonical Allele Identifier: CA305769949
Gene: NOTCH3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1807370
ClinVar RCV Id: RCV002475327
dbSNP Id: rs963416165
gnomAD v3: 19-15180101-G-A
gnomAD v4: 19-15180101-G-A
MyVariant Identifiers: chr19:g.15290912G>A (hg19) chr19:g.15180101G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15180101G>A , CM000681.2:g.15180101G>A GRCh38
NC_000019.9:g.15290912G>A , CM000681.1:g.15290912G>A GRCh37
NC_000019.8:g.15151912G>A NCBI36
NG_009819.1:g.25881C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.3298C>T MANE Select ENSP00000263388.1:p.Arg1100Cys
ENST00000263388.6:c.3298C>T ENSP00000263388.1:p.Arg1100Cys
ENST00000601011.1:c.3139C>T ENSP00000473138.1:p.Arg1047Cys
NM_000435.2:c.3298C>T NP_000426.2:p.Arg1100Cys
XM_005259924.3:c.3142C>T XP_005259981.1:p.Arg1048Cys
XM_005259924.4:c.3142C>T XP_005259981.1:p.Arg1048Cys
NM_000435.3:c.3298C>T MANE Select NP_000426.2:p.Arg1100Cys
Search 100 bp 5'
Search 100 bp 3'