Canonical Allele Identifier: CA2583064571
Gene: NOTCH3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15187057T>C , CM000681.2:g.15187057T>C GRCh38
NC_000019.9:g.15297868T>C , CM000681.1:g.15297868T>C GRCh37
NC_000019.8:g.15158868T>C NCBI36
NG_009819.1:g.18925A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.1840+48A>G MANE Select ENSP00000263388.1:n.1840+48A>G
ENST00000263388.6:c.1840+48A>G ENSP00000263388.1:n.1840+48A>G
ENST00000601011.1:c.1837+48A>G ENSP00000473138.1:n.1837+48A>G
NM_000435.2:c.1840+48A>G NP_000426.2:n.1840+48A>G
XM_005259924.3:c.1840+48A>G XP_005259981.1:n.1840+48A>G
XM_005259924.4:c.1840+48A>G XP_005259981.1:n.1840+48A>G
NM_000435.3:c.1840+48A>G MANE Select NP_000426.2:n.1840+48A>G