Canonical Allele Identifier: CA9263164
Gene: NOTCH3 HGNC NCBI

Linked Data

dbSNP Id: rs200822505
ExAC: 19:15291055 T / C
gnomAD v2: 19-15291055-T-C
gnomAD v4: 19-15180244-T-C
MyVariant Identifiers: chr19:g.15291055T>C (hg19) chr19:g.15180244T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15180244T>C , CM000681.2:g.15180244T>C GRCh38
NC_000019.9:g.15291055T>C , CM000681.1:g.15291055T>C GRCh37
NC_000019.8:g.15152055T>C NCBI36
NG_009819.1:g.25738A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.3155A>G MANE Select ENSP00000263388.1:p.Glu1052Gly
ENST00000263388.6:c.3155A>G ENSP00000263388.1:p.Glu1052Gly
ENST00000601011.1:c.2996A>G ENSP00000473138.1:p.Glu999Gly
NM_000435.2:c.3155A>G NP_000426.2:p.Glu1052Gly
XM_005259924.3:c.2999A>G XP_005259981.1:p.Glu1000Gly
XM_005259924.4:c.2999A>G XP_005259981.1:p.Glu1000Gly
NM_000435.3:c.3155A>G MANE Select NP_000426.2:p.Glu1052Gly
Search 100 bp 5'
Search 100 bp 3'