Canonical Allele Identifier: CA9263871
Gene: NOTCH3 HGNC NCBI

Linked Data

dbSNP Id: rs750538598
ExAC: 19:15302957 C / G
gnomAD v2: 19-15302957-C-G
gnomAD v4: 19-15192146-C-G
MyVariant Identifiers: chr19:g.15302957C>G (hg19) chr19:g.15192146C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15192146C>G , CM000681.2:g.15192146C>G GRCh38
NC_000019.9:g.15302957C>G , CM000681.1:g.15302957C>G GRCh37
NC_000019.8:g.15163957C>G NCBI36
NG_009819.1:g.13836G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.493G>C MANE Select ENSP00000263388.1:p.Gly165Arg
ENST00000263388.6:c.493G>C ENSP00000263388.1:p.Gly165Arg
ENST00000601011.1:c.490G>C ENSP00000473138.1:p.Gly164Arg
NM_000435.2:c.493G>C NP_000426.2:p.Gly165Arg
XM_005259924.3:c.493G>C XP_005259981.1:p.Gly165Arg
XM_005259924.4:c.493G>C XP_005259981.1:p.Gly165Arg
NM_000435.3:c.493G>C MANE Select NP_000426.2:p.Gly165Arg
Search 100 bp 5'
Search 100 bp 3'