Canonical Allele Identifier: CA404534104
Gene: NOTCH3 HGNC NCBI

Linked Data

ClinVar Variation Id: 585606
ClinVar RCV Id: RCV000711003
dbSNP Id: rs1568361985
MyVariant Identifiers: chr19:g.15303019C>T (hg19) chr19:g.15192208C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15192208C>T , CM000681.2:g.15192208C>T GRCh38
NC_000019.9:g.15303019C>T , CM000681.1:g.15303019C>T GRCh37
NC_000019.8:g.15164019C>T NCBI36
NG_009819.1:g.13774G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.431G>A MANE Select ENSP00000263388.1:p.Cys144Tyr
ENST00000263388.6:c.431G>A ENSP00000263388.1:p.Cys144Tyr
ENST00000601011.1:c.428G>A ENSP00000473138.1:p.Cys143Tyr
NM_000435.2:c.431G>A NP_000426.2:p.Cys144Tyr
XM_005259924.3:c.431G>A XP_005259981.1:p.Cys144Tyr
XM_005259924.4:c.431G>A XP_005259981.1:p.Cys144Tyr
NM_000435.3:c.431G>A MANE Select NP_000426.2:p.Cys144Tyr
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