Canonical Allele Identifier: CA2813714763

Gene: NOTCH3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15179970A>G , CM000681.2:g.15179970A>G	GRCh38
NC_000019.9:g.15290781A>G , CM000681.1:g.15290781A>G	GRCh37
NC_000019.8:g.15151781A>G	NCBI36
NG_009819.1:g.26012T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.3327+102T>C MANE Select	ENSP00000263388.1:n.3327+102T>C
ENST00000263388.6:c.3327+102T>C	ENSP00000263388.1:n.3327+102T>C
ENST00000601011.1:c.3168+102T>C	ENSP00000473138.1:n.3168+102T>C
NM_000435.2:c.3327+102T>C	NP_000426.2:n.3327+102T>C
XM_005259924.3:c.3171+102T>C	XP_005259981.1:n.3171+102T>C
XM_005259924.4:c.3171+102T>C	XP_005259981.1:n.3171+102T>C
NM_000435.3:c.3327+102T>C MANE Select	NP_000426.2:n.3327+102T>C