Canonical Allele Identifier: CA305770146
Gene: NOTCH3 HGNC NCBI

Linked Data

dbSNP Id: rs545795255
gnomAD v2: 19-15291280-T-C
gnomAD v3: 19-15180469-T-C
gnomAD v4: 19-15180469-T-C
MyVariant Identifiers: chr19:g.15291280T>C (hg19) chr19:g.15180469T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15180469T>C , CM000681.2:g.15180469T>C GRCh38
NC_000019.9:g.15291280T>C , CM000681.1:g.15291280T>C GRCh37
NC_000019.8:g.15152280T>C NCBI36
NG_009819.1:g.25513A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.3143-213A>G MANE Select ENSP00000263388.1:n.3143-213A>G
ENST00000263388.6:c.3143-213A>G ENSP00000263388.1:n.3143-213A>G
ENST00000601011.1:c.2984-213A>G ENSP00000473138.1:n.2984-213A>G
NM_000435.2:c.3143-213A>G NP_000426.2:n.3143-213A>G
XM_005259924.3:c.2987-213A>G XP_005259981.1:n.2987-213A>G
XM_005259924.4:c.2987-213A>G XP_005259981.1:n.2987-213A>G
NM_000435.3:c.3143-213A>G MANE Select NP_000426.2:n.3143-213A>G
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