Canonical Allele Identifier: CA9263596
Gene: NOTCH3 HGNC NCBI

Linked Data

ClinVar Variation Id: 328410
ClinVar RCV Id: RCV000517509 RCV000341740 RCV000864286
dbSNP Id: rs75617410
ExAC: 19:15298136 C / A
gnomAD v2: 19-15298136-C-A
gnomAD v3: 19-15187325-C-A
gnomAD v4: 19-15187325-C-A
MyVariant Identifiers: chr19:g.15298136C>A (hg19) chr19:g.15187325C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15187325C>A , CM000681.2:g.15187325C>A GRCh38
NC_000019.9:g.15298136C>A , CM000681.1:g.15298136C>A GRCh37
NC_000019.8:g.15159136C>A NCBI36
NG_009819.1:g.18657G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.1620G>T MANE Select ENSP00000263388.1:p.Thr540=
ENST00000263388.6:c.1620G>T ENSP00000263388.1:p.Thr540=
ENST00000601011.1:c.1617G>T ENSP00000473138.1:p.Thr539=
NM_000435.2:c.1620G>T NP_000426.2:p.Thr540=
XM_005259924.3:c.1620G>T XP_005259981.1:p.Thr540=
XM_005259924.4:c.1620G>T XP_005259981.1:p.Thr540=
NM_000435.3:c.1620G>T MANE Select NP_000426.2:p.Thr540=
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