Canonical Allele Identifier: CA404513045

Gene: NOTCH3

Linked Data

• gnomAD v4: 19-15180106-G-A
• MyVariant Identifiers: chr19:g.15290917G>A (hg19) ; chr19:g.15180106G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15180106G>A , CM000681.2:g.15180106G>A	GRCh38
NC_000019.9:g.15290917G>A , CM000681.1:g.15290917G>A	GRCh37
NC_000019.8:g.15151917G>A	NCBI36
NG_009819.1:g.25876C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.3293C>T MANE Select	ENSP00000263388.1:p.Thr1098Ile
ENST00000263388.6:c.3293C>T	ENSP00000263388.1:p.Thr1098Ile
ENST00000601011.1:c.3134C>T	ENSP00000473138.1:p.Thr1045Ile
NM_000435.2:c.3293C>T	NP_000426.2:p.Thr1098Ile
XM_005259924.3:c.3137C>T	XP_005259981.1:p.Thr1046Ile
XM_005259924.4:c.3137C>T	XP_005259981.1:p.Thr1046Ile
NM_000435.3:c.3293C>T MANE Select	NP_000426.2:p.Thr1098Ile