Canonical Allele Identifier: CA375564345

Gene: NOTCH1

Linked Data

• gnomAD v4: 9-136518145-C-A
• COSMIC: COSM3929948 ; COSM3929949
• MyVariant Identifiers: chr9:g.139412597C>A (hg19) ; chr9:g.136518145C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136518145C>A , CM000671.2:g.136518145C>A	GRCh38
NC_000009.11:g.139412597C>A , CM000671.1:g.139412597C>A	GRCh37
NC_000009.10:g.138532418C>A	NCBI36
NG_007458.1:g.32642G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.1247G>T MANE Select	ENSP00000498587.1:p.Cys416Phe
ENST00000679595.1:c.1247G>T	ENSP00000506241.1:p.Cys416Phe
ENST00000680133.1:c.1247G>T	ENSP00000505319.1:p.Cys416Phe
ENST00000680218.1:c.1247G>T	ENSP00000505339.1:p.Cys416Phe
ENST00000680668.1:c.1247G>T	ENSP00000506336.1:p.Cys416Phe
ENST00000680924.1:c.1247G>T	ENSP00000506031.1:p.Cys416Phe
ENST00000681135.1:c.1247G>T	ENSP00000506636.1:p.Cys416Phe
ENST00000681454.1:c.*483G>T	ENSP00000505763.1:n.*483G>T
ENST00000277541.6:c.1247G>T	ENSP00000277541.6:p.Cys416Phe
NM_017617.3:c.1247G>T	NP_060087.3:p.Cys416Phe
XM_011518717.1:c.548G>T	XP_011517019.1:p.Cys183Phe
NM_017617.5:c.1247G>T MANE Select	NP_060087.3:p.Cys416Phe
XM_011518717.2:c.524G>T	XP_011517019.2:p.Cys175Phe