Canonical Allele Identifier: CA404533905
Gene: NOTCH3 HGNC NCBI

Linked Data

dbSNP Id: rs779195429
gnomAD v3: 19-15192165-G-C
gnomAD v4: 19-15192165-G-C
MyVariant Identifiers: chr19:g.15302976G>C (hg19) chr19:g.15192165G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15192165G>C , CM000681.2:g.15192165G>C GRCh38
NC_000019.9:g.15302976G>C , CM000681.1:g.15302976G>C GRCh37
NC_000019.8:g.15163976G>C NCBI36
NG_009819.1:g.13817C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.474C>G MANE Select ENSP00000263388.1:p.Asp158Glu
ENST00000263388.6:c.474C>G ENSP00000263388.1:p.Asp158Glu
ENST00000601011.1:c.471C>G ENSP00000473138.1:p.Asp157Glu
NM_000435.2:c.474C>G NP_000426.2:p.Asp158Glu
XM_005259924.3:c.474C>G XP_005259981.1:p.Asp158Glu
XM_005259924.4:c.474C>G XP_005259981.1:p.Asp158Glu
NM_000435.3:c.474C>G MANE Select NP_000426.2:p.Asp158Glu
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