Canonical Allele Identifier: CA375634234

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1842959462
• gnomAD v3: 9-136499117-T-A
• gnomAD v4: 9-136499117-T-A
• MyVariant Identifiers: chr9:g.139393569T>A (hg19) ; chr9:g.136499117T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136499117T>A , CM000671.2:g.136499117T>A	GRCh38
NC_000009.11:g.139393569T>A , CM000671.1:g.139393569T>A	GRCh37
NC_000009.10:g.138513390T>A	NCBI36
NG_007458.1:g.51670A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6077A>T MANE Select	ENSP00000498587.1:p.Asp2026Val
ENST00000679595.1:c.*1117A>T	ENSP00000506241.1:n.*1117A>T
ENST00000679969.1:n.2558A>T
ENST00000680003.1:n.2409A>T
ENST00000680133.1:c.5963A>T	ENSP00000505319.1:p.Asp1988Val
ENST00000680218.1:c.5957A>T	ENSP00000505339.1:p.Asp1986Val
ENST00000680668.1:c.5963A>T	ENSP00000506336.1:p.Asp1988Val
ENST00000680778.1:c.3674A>T	ENSP00000506033.1:p.Asp1225Val
ENST00000680924.1:c.*3477A>T	ENSP00000506031.1:n.*3477A>T
ENST00000681135.1:c.*3686A>T	ENSP00000506636.1:n.*3686A>T
ENST00000681298.1:n.4182A>T
ENST00000681454.1:c.*5313A>T	ENSP00000505763.1:n.*5313A>T
ENST00000277541.6:c.6077A>T	ENSP00000277541.6:p.Asp2026Val
NM_017617.3:c.6077A>T	NP_060087.3:p.Asp2026Val
XM_011518717.1:c.5378A>T	XP_011517019.1:p.Asp1793Val
NM_017617.5:c.6077A>T MANE Select	NP_060087.3:p.Asp2026Val
XM_011518717.2:c.5354A>T	XP_011517019.2:p.Asp1785Val