Canonical Allele Identifier: CA404524332

Gene: NOTCH3

Linked Data

• ClinVar Variation Id: 2649442
• ClinVar RCV Id: RCV003423395
• MyVariant Identifiers: chr19:g.15297773C>T (hg19) ; chr19:g.15186962C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15186962C>T , CM000681.2:g.15186962C>T	GRCh38
NC_000019.9:g.15297773C>T , CM000681.1:g.15297773C>T	GRCh37
NC_000019.8:g.15158773C>T	NCBI36
NG_009819.1:g.19020G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.1867G>A MANE Select	ENSP00000263388.1:p.Asp623Asn
ENST00000263388.6:c.1867G>A	ENSP00000263388.1:p.Asp623Asn
ENST00000601011.1:c.1864G>A	ENSP00000473138.1:p.Asp622Asn
NM_000435.2:c.1867G>A	NP_000426.2:p.Asp623Asn
XM_005259924.3:c.1867G>A	XP_005259981.1:p.Asp623Asn
XM_005259924.4:c.1867G>A	XP_005259981.1:p.Asp623Asn
NM_000435.3:c.1867G>A MANE Select	NP_000426.2:p.Asp623Asn