Canonical Allele Identifier: CA9263141
Gene: NOTCH3 HGNC NCBI

Linked Data

dbSNP Id: rs759267180
ExAC: 19:15290919 C / A
gnomAD v2: 19-15290919-C-A
gnomAD v4: 19-15180108-C-A
MyVariant Identifiers: chr19:g.15290919C>A (hg19) chr19:g.15180108C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15180108C>A , CM000681.2:g.15180108C>A GRCh38
NC_000019.9:g.15290919C>A , CM000681.1:g.15290919C>A GRCh37
NC_000019.8:g.15151919C>A NCBI36
NG_009819.1:g.25874G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.3291G>T MANE Select ENSP00000263388.1:p.Gly1097=
ENST00000263388.6:c.3291G>T ENSP00000263388.1:p.Gly1097=
ENST00000601011.1:c.3132G>T ENSP00000473138.1:p.Gly1044=
NM_000435.2:c.3291G>T NP_000426.2:p.Gly1097=
XM_005259924.3:c.3135G>T XP_005259981.1:p.Gly1045=
XM_005259924.4:c.3135G>T XP_005259981.1:p.Gly1045=
NM_000435.3:c.3291G>T MANE Select NP_000426.2:p.Gly1097=
Search 100 bp 5'
Search 100 bp 3'