Canonical Allele Identifier: CA404533373
Gene: NOTCH3 HGNC NCBI

Linked Data

ClinVar Variation Id: 994839
ClinVar RCV Id: RCV001288543
dbSNP Id: rs1555729468
MyVariant Identifiers: chr19:g.15302848C>A (hg19) chr19:g.15192037C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15192037C>A , CM000681.2:g.15192037C>A GRCh38
NC_000019.9:g.15302848C>A , CM000681.1:g.15302848C>A GRCh37
NC_000019.8:g.15163848C>A NCBI36
NG_009819.1:g.13945G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.602G>T MANE Select ENSP00000263388.1:p.Cys201Phe
ENST00000263388.6:c.602G>T ENSP00000263388.1:p.Cys201Phe
ENST00000601011.1:c.599G>T ENSP00000473138.1:p.Cys200Phe
NM_000435.2:c.602G>T NP_000426.2:p.Cys201Phe
XM_005259924.3:c.602G>T XP_005259981.1:p.Cys201Phe
XM_005259924.4:c.602G>T XP_005259981.1:p.Cys201Phe
NM_000435.3:c.602G>T MANE Select NP_000426.2:p.Cys201Phe
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