Canonical Allele Identifier: CA404524024
Gene: NOTCH3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2507034
ClinVar RCV Id: RCV003238175
gnomAD v4: 19-15186902-A-C
MyVariant Identifiers: chr19:g.15297713A>C (hg19) chr19:g.15186902A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15186902A>C , CM000681.2:g.15186902A>C GRCh38
NC_000019.9:g.15297713A>C , CM000681.1:g.15297713A>C GRCh37
NC_000019.8:g.15158713A>C NCBI36
NG_009819.1:g.19080T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.1927T>G MANE Select ENSP00000263388.1:p.Cys643Gly
ENST00000263388.6:c.1927T>G ENSP00000263388.1:p.Cys643Gly
ENST00000601011.1:c.1924T>G ENSP00000473138.1:p.Cys642Gly
NM_000435.2:c.1927T>G NP_000426.2:p.Cys643Gly
XM_005259924.3:c.1927T>G XP_005259981.1:p.Cys643Gly
XM_005259924.4:c.1927T>G XP_005259981.1:p.Cys643Gly
NM_000435.3:c.1927T>G MANE Select NP_000426.2:p.Cys643Gly
Search 100 bp 5'
Search 100 bp 3'