Canonical Allele Identifier: CA506078701
Gene: NOTCH3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2692294
ClinVar RCV Id: RCV003494491
dbSNP Id: rs2145441557
gnomAD v4: 19-15192060-T-G
MyVariant Identifiers: chr19:g.15302871T>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15192060T>G , CM000681.2:g.15192060T>G GRCh38
NC_000019.9:g.15302871T>G , CM000681.1:g.15302871T>G GRCh37
NC_000019.8:g.15163871T>G NCBI36
NG_009819.1:g.13922A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.579A>C MANE Select ENSP00000263388.1:p.Leu193=
ENST00000263388.6:c.579A>C ENSP00000263388.1:p.Leu193=
ENST00000601011.1:c.576A>C ENSP00000473138.1:p.Leu192=
NM_000435.2:c.579A>C NP_000426.2:p.Leu193=
XM_005259924.3:c.579A>C XP_005259981.1:p.Leu193=
XM_005259924.4:c.579A>C XP_005259981.1:p.Leu193=
NM_000435.3:c.579A>C MANE Select NP_000426.2:p.Leu193=
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