Canonical Allele Identifier: CA305775126
Gene: NOTCH3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1235987
ClinVar RCV Id: RCV001619585
dbSNP Id: rs12980291
gnomAD v2: 19-15298276-A-G
gnomAD v3: 19-15187465-A-G
gnomAD v4: 19-15187465-A-G
MyVariant Identifiers: chr19:g.15298276A>G (hg19) chr19:g.15187465A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15187465A>G , CM000681.2:g.15187465A>G GRCh38
NC_000019.9:g.15298276A>G , CM000681.1:g.15298276A>G GRCh37
NC_000019.8:g.15159276A>G NCBI36
NG_009819.1:g.18517T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.1607-127T>C MANE Select ENSP00000263388.1:n.1607-127T>C
ENST00000263388.6:c.1607-127T>C ENSP00000263388.1:n.1607-127T>C
ENST00000601011.1:c.1604-127T>C ENSP00000473138.1:n.1604-127T>C
NM_000435.2:c.1607-127T>C NP_000426.2:n.1607-127T>C
XM_005259924.3:c.1607-127T>C XP_005259981.1:n.1607-127T>C
XM_005259924.4:c.1607-127T>C XP_005259981.1:n.1607-127T>C
NM_000435.3:c.1607-127T>C MANE Select NP_000426.2:n.1607-127T>C
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