Canonical Allele Identifier: CA375643952

Gene: NOTCH1

Linked Data

• gnomAD v4: 9-136504682-T-C
• MyVariant Identifiers: chr9:g.139399134T>C (hg19) ; chr9:g.136504682T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504682T>C , CM000671.2:g.136504682T>C	GRCh38
NC_000009.11:g.139399134T>C , CM000671.1:g.139399134T>C	GRCh37
NC_000009.10:g.138518955T>C	NCBI36
NG_007458.1:g.46105A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2816A>G
ENST00000651671.1:c.5009A>G MANE Select	ENSP00000498587.1:p.Asp1670Gly
ENST00000679595.1:c.5009A>G	ENSP00000506241.1:p.Asp1670Gly
ENST00000680133.1:c.4895A>G	ENSP00000505319.1:p.Asp1632Gly
ENST00000680218.1:c.4889A>G	ENSP00000505339.1:p.Asp1630Gly
ENST00000680668.1:c.4895A>G	ENSP00000506336.1:p.Asp1632Gly
ENST00000680778.1:c.2606A>G	ENSP00000506033.1:p.Asp869Gly
ENST00000680924.1:c.*2409A>G	ENSP00000506031.1:n.*2409A>G
ENST00000681135.1:c.*2618A>G	ENSP00000506636.1:n.*2618A>G
ENST00000681298.1:n.1822A>G
ENST00000681454.1:c.*4245A>G	ENSP00000505763.1:n.*4245A>G
ENST00000277541.6:c.5009A>G	ENSP00000277541.6:p.Asp1670Gly
ENST00000494783.1:n.164A>G
NM_017617.3:c.5009A>G	NP_060087.3:p.Asp1670Gly
XM_011518717.1:c.4310A>G	XP_011517019.1:p.Asp1437Gly
NM_017617.5:c.5009A>G MANE Select	NP_060087.3:p.Asp1670Gly
XM_011518717.2:c.4286A>G	XP_011517019.2:p.Asp1429Gly