Canonical Allele Identifier: CA404533534
Gene: NOTCH3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1256529
ClinVar RCV Id: RCV001663871
dbSNP Id: rs2145441610
MyVariant Identifiers: chr19:g.15302884T>C (hg19) chr19:g.15192073T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15192073T>C , CM000681.2:g.15192073T>C GRCh38
NC_000019.9:g.15302884T>C , CM000681.1:g.15302884T>C GRCh37
NC_000019.8:g.15163884T>C NCBI36
NG_009819.1:g.13909A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.566A>G MANE Select ENSP00000263388.1:p.Tyr189Cys
ENST00000263388.6:c.566A>G ENSP00000263388.1:p.Tyr189Cys
ENST00000601011.1:c.563A>G ENSP00000473138.1:p.Tyr188Cys
NM_000435.2:c.566A>G NP_000426.2:p.Tyr189Cys
XM_005259924.3:c.566A>G XP_005259981.1:p.Tyr189Cys
XM_005259924.4:c.566A>G XP_005259981.1:p.Tyr189Cys
NM_000435.3:c.566A>G MANE Select NP_000426.2:p.Tyr189Cys
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