Canonical Allele Identifier: CA404533356

Gene: NOTCH3

Linked Data

• gnomAD v4: 19-15192034-G-T
• MyVariant Identifiers: chr19:g.15302845G>T (hg19) ; chr19:g.15192034G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15192034G>T , CM000681.2:g.15192034G>T	GRCh38
NC_000019.9:g.15302845G>T , CM000681.1:g.15302845G>T	GRCh37
NC_000019.8:g.15163845G>T	NCBI36
NG_009819.1:g.13948C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.605C>A MANE Select	ENSP00000263388.1:p.Ala202Glu
ENST00000263388.6:c.605C>A	ENSP00000263388.1:p.Ala202Glu
ENST00000601011.1:c.602C>A	ENSP00000473138.1:p.Ala201Glu
NM_000435.2:c.605C>A	NP_000426.2:p.Ala202Glu
XM_005259924.3:c.605C>A	XP_005259981.1:p.Ala202Glu
XM_005259924.4:c.605C>A	XP_005259981.1:p.Ala202Glu
NM_000435.3:c.605C>A MANE Select	NP_000426.2:p.Ala202Glu