Canonical Allele Identifier: CA2576654640

Gene: NOTCH3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15184199G>A , CM000681.2:g.15184199G>A	GRCh38
NC_000019.9:g.15295010G>A , CM000681.1:g.15295010G>A	GRCh37
NC_000019.8:g.15156010G>A	NCBI36
NG_009819.1:g.21783C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000263388.7:c.2566+96C>T MANE Select	ENSP00000263388.1:n.2566+96C>T
ENST00000263388.6:c.2566+96C>T	ENSP00000263388.1:n.2566+96C>T
ENST00000601011.1:c.2407+707C>T	ENSP00000473138.1:n.2407+707C>T
NM_000435.2:c.2566+96C>T	NP_000426.2:n.2566+96C>T
XM_005259924.3:c.2410+707C>T	XP_005259981.1:n.2410+707C>T
XM_005259924.4:c.2410+707C>T	XP_005259981.1:n.2410+707C>T
NM_000435.3:c.2566+96C>T MANE Select	NP_000426.2:n.2566+96C>T