Canonical Allele Identifier: CA506078864
Gene: NOTCH3 HGNC NCBI

Linked Data

gnomAD v4: 19-15192156-C-T
MyVariant Identifiers: chr19:g.15302967C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15192156C>T , CM000681.2:g.15192156C>T GRCh38
NC_000019.9:g.15302967C>T , CM000681.1:g.15302967C>T GRCh37
NC_000019.8:g.15163967C>T NCBI36
NG_009819.1:g.13826G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.483G>A MANE Select ENSP00000263388.1:p.Glu161=
ENST00000263388.6:c.483G>A ENSP00000263388.1:p.Glu161=
ENST00000601011.1:c.480G>A ENSP00000473138.1:p.Glu160=
NM_000435.2:c.483G>A NP_000426.2:p.Glu161=
XM_005259924.3:c.483G>A XP_005259981.1:p.Glu161=
XM_005259924.4:c.483G>A XP_005259981.1:p.Glu161=
NM_000435.3:c.483G>A MANE Select NP_000426.2:p.Glu161=
Search 100 bp 5'
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