Canonical Allele Identifier: CA404534083

Gene: NOTCH3

Linked Data

• dbSNP Id: rs1441875147
• gnomAD v2: 19-15303016-G-A
• MyVariant Identifiers: chr19:g.15303016G>A (hg19) ; chr19:g.15192205G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15192205G>A , CM000681.2:g.15192205G>A	GRCh38
NC_000019.9:g.15303016G>A , CM000681.1:g.15303016G>A	GRCh37
NC_000019.8:g.15164016G>A	NCBI36
NG_009819.1:g.13777C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.434C>T MANE Select	ENSP00000263388.1:p.Ser145Phe
ENST00000263388.6:c.434C>T	ENSP00000263388.1:p.Ser145Phe
ENST00000601011.1:c.431C>T	ENSP00000473138.1:p.Ser144Phe
NM_000435.2:c.434C>T	NP_000426.2:p.Ser145Phe
XM_005259924.3:c.434C>T	XP_005259981.1:p.Ser145Phe
XM_005259924.4:c.434C>T	XP_005259981.1:p.Ser145Phe
NM_000435.3:c.434C>T MANE Select	NP_000426.2:p.Ser145Phe