Canonical Allele Identifier: CA404533474
Gene: NOTCH3 HGNC NCBI

Linked Data

ClinVar Variation Id: 585611
ClinVar RCV Id: RCV000711008 RCV001175252
dbSNP Id: rs1568361818
MyVariant Identifiers: chr19:g.15302870A>T (hg19) chr19:g.15192059A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15192059A>T , CM000681.2:g.15192059A>T GRCh38
NC_000019.9:g.15302870A>T , CM000681.1:g.15302870A>T GRCh37
NC_000019.8:g.15163870A>T NCBI36
NG_009819.1:g.13923T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.580T>A MANE Select ENSP00000263388.1:p.Cys194Ser
ENST00000263388.6:c.580T>A ENSP00000263388.1:p.Cys194Ser
ENST00000601011.1:c.577T>A ENSP00000473138.1:p.Cys193Ser
NM_000435.2:c.580T>A NP_000426.2:p.Cys194Ser
XM_005259924.3:c.580T>A XP_005259981.1:p.Cys194Ser
XM_005259924.4:c.580T>A XP_005259981.1:p.Cys194Ser
NM_000435.3:c.580T>A MANE Select NP_000426.2:p.Cys194Ser
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