Canonical Allele Identifier: CA404514283

Gene: NOTCH3

Linked Data

• ClinVar Variation Id: 447825
• ClinVar RCV Id: RCV000518485 ; RCV001800727
• dbSNP Id: rs1167405466
• gnomAD v2: 19-15291572-T-C
• gnomAD v3: 19-15180761-T-C
• gnomAD v4: 19-15180761-T-C
• MyVariant Identifiers: chr19:g.15291572T>C (hg19) ; chr19:g.15180761T>C (hg38)
• PubMed: PMID:12146805 ; PMID:18803652 ; PMID:20038773 ; PMID:21786151

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15180761T>C , CM000681.2:g.15180761T>C	GRCh38
NC_000019.9:g.15291572T>C , CM000681.1:g.15291572T>C	GRCh37
NC_000019.8:g.15152572T>C	NCBI36
NG_009819.1:g.25221A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.3062A>G MANE Select	ENSP00000263388.1:p.Tyr1021Cys
ENST00000263388.6:c.3062A>G	ENSP00000263388.1:p.Tyr1021Cys
ENST00000601011.1:c.2903A>G	ENSP00000473138.1:p.Tyr968Cys
NM_000435.2:c.3062A>G	NP_000426.2:p.Tyr1021Cys
XM_005259924.3:c.2906A>G	XP_005259981.1:p.Tyr969Cys
XM_005259924.4:c.2906A>G	XP_005259981.1:p.Tyr969Cys
NM_000435.3:c.3062A>G MANE Select	NP_000426.2:p.Tyr1021Cys