Canonical Allele Identifier: CA506078674

Gene: NOTCH3

Linked Data

• dbSNP Id: rs1043994
• gnomAD v2: 19-15302844-T-A
• gnomAD v4: 19-15192033-T-A
• MyVariant Identifiers: chr19:g.15302844T>A (hg19) ; chr19:g.15192033T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15192033T>A , CM000681.2:g.15192033T>A	GRCh38
NC_000019.9:g.15302844T>A , CM000681.1:g.15302844T>A	GRCh37
NC_000019.8:g.15163844T>A	NCBI36
NG_009819.1:g.13949A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000263388.7:c.606A>T MANE Select	ENSP00000263388.1:p.Ala202=
ENST00000263388.6:c.606A>T	ENSP00000263388.1:p.Ala202=
ENST00000601011.1:c.603A>T	ENSP00000473138.1:p.Ala201=
NM_000435.2:c.606A>T	NP_000426.2:p.Ala202=
XM_005259924.3:c.606A>T	XP_005259981.1:p.Ala202=
XM_005259924.4:c.606A>T	XP_005259981.1:p.Ala202=
NM_000435.3:c.606A>T MANE Select	NP_000426.2:p.Ala202=