Canonical Allele Identifier: CA2324749912
Gene: NOTCH3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15191926A= , CM000681.2:g.15191926A= GRCh38
NC_000019.9:g.15302737A= , CM000681.1:g.15302737A= GRCh37
NC_000019.8:g.15163737A= NCBI36
NG_009819.1:g.14056T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.679+34T= MANE Select ENSP00000263388.1:n.679+34T=
ENST00000263388.6:c.679+34T= ENSP00000263388.1:n.679+34T=
ENST00000601011.1:c.676+34T= ENSP00000473138.1:n.676+34T=
NM_000435.2:c.679+34T= NP_000426.2:n.679+34T=
XM_005259924.3:c.679+34T= XP_005259981.1:n.679+34T=
XM_005259924.4:c.679+34T= XP_005259981.1:n.679+34T=
NM_000435.3:c.679+34T= MANE Select NP_000426.2:n.679+34T=
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