Canonical Allele Identifier: CA9263152
Gene: NOTCH3 HGNC NCBI

Linked Data

dbSNP Id: rs747722676
ExAC: 19:15290974 C / T
gnomAD v2: 19-15290974-C-T
gnomAD v3: 19-15180163-C-T
gnomAD v4: 19-15180163-C-T
MyVariant Identifiers: chr19:g.15290974C>T (hg19) chr19:g.15180163C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15180163C>T , CM000681.2:g.15180163C>T GRCh38
NC_000019.9:g.15290974C>T , CM000681.1:g.15290974C>T GRCh37
NC_000019.8:g.15151974C>T NCBI36
NG_009819.1:g.25819G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.3236G>A MANE Select ENSP00000263388.1:p.Ser1079Asn
ENST00000263388.6:c.3236G>A ENSP00000263388.1:p.Ser1079Asn
ENST00000601011.1:c.3077G>A ENSP00000473138.1:p.Ser1026Asn
NM_000435.2:c.3236G>A NP_000426.2:p.Ser1079Asn
XM_005259924.3:c.3080G>A XP_005259981.1:p.Ser1027Asn
XM_005259924.4:c.3080G>A XP_005259981.1:p.Ser1027Asn
NM_000435.3:c.3236G>A MANE Select NP_000426.2:p.Ser1079Asn
Search 100 bp 5'
Search 100 bp 3'