Canonical Allele Identifier: CA9263508
Gene: NOTCH3 HGNC NCBI

Linked Data

ClinVar Variation Id: 978703
ClinVar RCV Id: RCV001293043 RCV002570623
dbSNP Id: rs753801611
ExAC: 19:15297737 G / A
gnomAD v2: 19-15297737-G-A
gnomAD v4: 19-15186926-G-A
MyVariant Identifiers: chr19:g.15297737G>A (hg19) chr19:g.15186926G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15186926G>A , CM000681.2:g.15186926G>A GRCh38
NC_000019.9:g.15297737G>A , CM000681.1:g.15297737G>A GRCh37
NC_000019.8:g.15158737G>A NCBI36
NG_009819.1:g.19056C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.1903C>T MANE Select ENSP00000263388.1:p.Arg635Cys
ENST00000263388.6:c.1903C>T ENSP00000263388.1:p.Arg635Cys
ENST00000601011.1:c.1900C>T ENSP00000473138.1:p.Arg634Cys
NM_000435.2:c.1903C>T NP_000426.2:p.Arg635Cys
XM_005259924.3:c.1903C>T XP_005259981.1:p.Arg635Cys
XM_005259924.4:c.1903C>T XP_005259981.1:p.Arg635Cys
NM_000435.3:c.1903C>T MANE Select NP_000426.2:p.Arg635Cys
Search 100 bp 5'
Search 100 bp 3'