Canonical Allele Identifier: CA9263526
Gene: NOTCH3 HGNC NCBI

Linked Data

dbSNP Id: rs770689026
ExAC: 19:15297850 T / C
gnomAD v2: 19-15297850-T-C
gnomAD v3: 19-15187039-T-C
gnomAD v4: 19-15187039-T-C
MyVariant Identifiers: chr19:g.15297850T>C (hg19) chr19:g.15187039T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15187039T>C , CM000681.2:g.15187039T>C GRCh38
NC_000019.9:g.15297850T>C , CM000681.1:g.15297850T>C GRCh37
NC_000019.8:g.15158850T>C NCBI36
NG_009819.1:g.18943A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000263388.7:c.1841-51A>G MANE Select ENSP00000263388.1:n.1841-51A>G
ENST00000263388.6:c.1841-51A>G ENSP00000263388.1:n.1841-51A>G
ENST00000601011.1:c.1838-51A>G ENSP00000473138.1:n.1838-51A>G
NM_000435.2:c.1841-51A>G NP_000426.2:n.1841-51A>G
XM_005259924.3:c.1841-51A>G XP_005259981.1:n.1841-51A>G
XM_005259924.4:c.1841-51A>G XP_005259981.1:n.1841-51A>G
NM_000435.3:c.1841-51A>G MANE Select NP_000426.2:n.1841-51A>G
Search 100 bp 5'
Search 100 bp 3'