Canonical Allele Identifier: CA506078945

Gene: NOTCH3

Linked Data

• dbSNP Id: rs1599395079
• gnomAD v4: 19-15192219-T-A
• MyVariant Identifiers: chr19:g.15303030T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15192219T>A , CM000681.2:g.15192219T>A	GRCh38
NC_000019.9:g.15303030T>A , CM000681.1:g.15303030T>A	GRCh37
NC_000019.8:g.15164030T>A	NCBI36
NG_009819.1:g.13763A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.420A>T MANE Select	ENSP00000263388.1:p.Gly140=
ENST00000263388.6:c.420A>T	ENSP00000263388.1:p.Gly140=
ENST00000601011.1:c.417A>T	ENSP00000473138.1:p.Gly139=
NM_000435.2:c.420A>T	NP_000426.2:p.Gly140=
XM_005259924.3:c.420A>T	XP_005259981.1:p.Gly140=
XM_005259924.4:c.420A>T	XP_005259981.1:p.Gly140=
NM_000435.3:c.420A>T MANE Select	NP_000426.2:p.Gly140=