Canonical Allele Identifier: CA9263770
Gene: NOTCH3 HGNC NCBI

Linked Data

ClinVar Variation Id: 328416
ClinVar RCV Id: RCV000274191 RCV000518387 RCV001787098 RCV002495035
dbSNP Id: rs138837495
ExAC: 19:15302446 C / T
gnomAD v2: 19-15302446-C-T
gnomAD v3: 19-15191635-C-T
gnomAD v4: 19-15191635-C-T
MyVariant Identifiers: chr19:g.15302446C>T (hg19) chr19:g.15191635C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15191635C>T , CM000681.2:g.15191635C>T GRCh38
NC_000019.9:g.15302446C>T , CM000681.1:g.15302446C>T GRCh37
NC_000019.8:g.15163446C>T NCBI36
NG_009819.1:g.14347G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.825G>A MANE Select ENSP00000263388.1:p.Val275=
ENST00000263388.6:c.825G>A ENSP00000263388.1:p.Val275=
ENST00000601011.1:c.822G>A ENSP00000473138.1:p.Val274=
NM_000435.2:c.825G>A NP_000426.2:p.Val275=
XM_005259924.3:c.825G>A XP_005259981.1:p.Val275=
XM_005259924.4:c.825G>A XP_005259981.1:p.Val275=
NM_000435.3:c.825G>A MANE Select NP_000426.2:p.Val275=
Search 100 bp 5'
Search 100 bp 3'