Canonical Allele Identifier: CA2324744147
Gene: NOTCH3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15179935G= , CM000681.2:g.15179935G= GRCh38
NC_000019.9:g.15290746G= , CM000681.1:g.15290746G= GRCh37
NC_000019.8:g.15151746G= NCBI36
NG_009819.1:g.26047C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.3327+137C= MANE Select ENSP00000263388.1:n.3327+137C=
ENST00000263388.6:c.3327+137C= ENSP00000263388.1:n.3327+137C=
ENST00000601011.1:c.3168+137C= ENSP00000473138.1:n.3168+137C=
NM_000435.2:c.3327+137C= NP_000426.2:n.3327+137C=
XM_005259924.3:c.3171+137C= XP_005259981.1:n.3171+137C=
XM_005259924.4:c.3171+137C= XP_005259981.1:n.3171+137C=
NM_000435.3:c.3327+137C= MANE Select NP_000426.2:n.3327+137C=
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