Canonical Allele Identifier: CA9263852
Gene: NOTCH3 HGNC NCBI

Linked Data

ClinVar Variation Id: 256148
ClinVar RCV Id: RCV000242339 RCV000374496 RCV001514211 RCV001785537
dbSNP Id: rs1043994
ExAC: 19:15302844 T / C
gnomAD v2: 19-15302844-T-C
gnomAD v3: 19-15192033-T-C
gnomAD v4: 19-15192033-T-C
MyVariant Identifiers: chr19:g.15302844T>C (hg19) chr19:g.15192033T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15192033T>C , CM000681.2:g.15192033T>C GRCh38
NC_000019.9:g.15302844T>C , CM000681.1:g.15302844T>C GRCh37
NC_000019.8:g.15163844T>C NCBI36
NG_009819.1:g.13949A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.606A>G MANE Select ENSP00000263388.1:p.Ala202=
ENST00000263388.6:c.606A>G ENSP00000263388.1:p.Ala202=
ENST00000601011.1:c.603A>G ENSP00000473138.1:p.Ala201=
NM_000435.2:c.606A>G NP_000426.2:p.Ala202=
XM_005259924.3:c.606A>G XP_005259981.1:p.Ala202=
XM_005259924.4:c.606A>G XP_005259981.1:p.Ala202=
NM_000435.3:c.606A>G MANE Select NP_000426.2:p.Ala202=
Search 100 bp 5'
Search 100 bp 3'