Canonical Allele Identifier: CA9263511
Gene: NOTCH3 HGNC NCBI

Linked Data

dbSNP Id: rs753234965
ExAC: 19:15297763 C / T
gnomAD v2: 19-15297763-C-T
MyVariant Identifiers: chr19:g.15297763C>T (hg19) chr19:g.15186952C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15186952C>T , CM000681.2:g.15186952C>T GRCh38
NC_000019.9:g.15297763C>T , CM000681.1:g.15297763C>T GRCh37
NC_000019.8:g.15158763C>T NCBI36
NG_009819.1:g.19030G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.1877G>A MANE Select ENSP00000263388.1:p.Ser626Asn
ENST00000263388.6:c.1877G>A ENSP00000263388.1:p.Ser626Asn
ENST00000601011.1:c.1874G>A ENSP00000473138.1:p.Ser625Asn
NM_000435.2:c.1877G>A NP_000426.2:p.Ser626Asn
XM_005259924.3:c.1877G>A XP_005259981.1:p.Ser626Asn
XM_005259924.4:c.1877G>A XP_005259981.1:p.Ser626Asn
NM_000435.3:c.1877G>A MANE Select NP_000426.2:p.Ser626Asn
Search 100 bp 5'
Search 100 bp 3'