Canonical Allele Identifier: CA375645964

Gene: NOTCH1

Linked Data

• gnomAD v4: 9-136505079-C-T
• MyVariant Identifiers: chr9:g.139399531C>T (hg19) ; chr9:g.136505079C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136505079C>T , CM000671.2:g.136505079C>T	GRCh38
NC_000009.11:g.139399531C>T , CM000671.1:g.139399531C>T	GRCh37
NC_000009.10:g.138519352C>T	NCBI36
NG_007458.1:g.45708G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2419G>A
ENST00000651671.1:c.4612G>A MANE Select	ENSP00000498587.1:p.Asp1538Asn
ENST00000679595.1:c.4612G>A	ENSP00000506241.1:p.Asp1538Asn
ENST00000680133.1:c.4498G>A	ENSP00000505319.1:p.Asp1500Asn
ENST00000680218.1:c.4492G>A	ENSP00000505339.1:p.Asp1498Asn
ENST00000680668.1:c.4498G>A	ENSP00000506336.1:p.Asp1500Asn
ENST00000680778.1:c.2209G>A	ENSP00000506033.1:p.Asp737Asn
ENST00000680924.1:c.*2012G>A	ENSP00000506031.1:n.*2012G>A
ENST00000681135.1:c.*2221G>A	ENSP00000506636.1:n.*2221G>A
ENST00000681298.1:n.1425G>A
ENST00000681454.1:c.*3848G>A	ENSP00000505763.1:n.*3848G>A
ENST00000277541.6:c.4612G>A	ENSP00000277541.6:p.Asp1538Asn
NM_017617.3:c.4612G>A	NP_060087.3:p.Asp1538Asn
XM_011518717.1:c.3913G>A	XP_011517019.1:p.Asp1305Asn
NM_017617.5:c.4612G>A MANE Select	NP_060087.3:p.Asp1538Asn
XM_011518717.2:c.3889G>A	XP_011517019.2:p.Asp1297Asn