Canonical Allele Identifier: CA201637596

Gene: NOTCH1

Linked Data

• dbSNP Id: rs958633726
• gnomAD v3: 9-136498954-T-C
• gnomAD v4: 9-136498954-T-C
• MyVariant Identifiers: chr9:g.139393406T>C (hg19) ; chr9:g.136498954T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136498954T>C , CM000671.2:g.136498954T>C	GRCh38
NC_000009.11:g.139393406T>C , CM000671.1:g.139393406T>C	GRCh37
NC_000009.10:g.138513227T>C	NCBI36
NG_007458.1:g.51833A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6125A>G MANE Select	ENSP00000498587.1:p.Asp2042Gly
ENST00000679595.1:c.*1165A>G	ENSP00000506241.1:n.*1165A>G
ENST00000679969.1:n.2721A>G
ENST00000680003.1:n.2457A>G
ENST00000680133.1:c.6011A>G	ENSP00000505319.1:p.Asp2004Gly
ENST00000680218.1:c.6005A>G	ENSP00000505339.1:p.Asp2002Gly
ENST00000680668.1:c.6011A>G	ENSP00000506336.1:p.Asp2004Gly
ENST00000680778.1:c.3722A>G	ENSP00000506033.1:p.Asp1241Gly
ENST00000680924.1:c.*3525A>G	ENSP00000506031.1:n.*3525A>G
ENST00000681135.1:c.*3734A>G	ENSP00000506636.1:n.*3734A>G
ENST00000681298.1:n.4230A>G
ENST00000681454.1:c.*5361A>G	ENSP00000505763.1:n.*5361A>G
ENST00000277541.6:c.6125A>G	ENSP00000277541.6:p.Asp2042Gly
NM_017617.3:c.6125A>G	NP_060087.3:p.Asp2042Gly
XM_011518717.1:c.5426A>G	XP_011517019.1:p.Asp1809Gly
NM_017617.5:c.6125A>G MANE Select	NP_060087.3:p.Asp2042Gly
XM_011518717.2:c.5402A>G	XP_011517019.2:p.Asp1801Gly