Canonical Allele Identifier: CA404519264
Gene: NOTCH3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1352885
ClinVar RCV Id: RCV002040015
dbSNP Id: rs1215184250
MyVariant Identifiers: chr19:g.15295147G>C (hg19) chr19:g.15184336G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15184336G>C , CM000681.2:g.15184336G>C GRCh38
NC_000019.9:g.15295147G>C , CM000681.1:g.15295147G>C GRCh37
NC_000019.8:g.15156147G>C NCBI36
NG_009819.1:g.21646C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.2525C>G MANE Select ENSP00000263388.1:p.Thr842Ser
ENST00000263388.6:c.2525C>G ENSP00000263388.1:p.Thr842Ser
ENST00000601011.1:c.2407+570C>G ENSP00000473138.1:n.2407+570C>G
NM_000435.2:c.2525C>G NP_000426.2:p.Thr842Ser
XM_005259924.3:c.2410+570C>G XP_005259981.1:n.2410+570C>G
XM_005259924.4:c.2410+570C>G XP_005259981.1:n.2410+570C>G
NM_000435.3:c.2525C>G MANE Select NP_000426.2:p.Thr842Ser
Search 100 bp 5'
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