Canonical Allele Identifier: CA375644664

Gene: NOTCH1

Linked Data

• gnomAD v4: 9-136504836-A-T
• COSMIC: COSM28526
• MyVariant Identifiers: chr9:g.139399288A>T (hg19) ; chr9:g.136504836A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504836A>T , CM000671.2:g.136504836A>T	GRCh38
NC_000009.11:g.139399288A>T , CM000671.1:g.139399288A>T	GRCh37
NC_000009.10:g.138519109A>T	NCBI36
NG_007458.1:g.45951T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2662T>A
ENST00000651671.1:c.4855T>A MANE Select	ENSP00000498587.1:p.Tyr1619Asn
ENST00000679595.1:c.4855T>A	ENSP00000506241.1:p.Tyr1619Asn
ENST00000680133.1:c.4741T>A	ENSP00000505319.1:p.Tyr1581Asn
ENST00000680218.1:c.4735T>A	ENSP00000505339.1:p.Tyr1579Asn
ENST00000680668.1:c.4741T>A	ENSP00000506336.1:p.Tyr1581Asn
ENST00000680778.1:c.2452T>A	ENSP00000506033.1:p.Tyr818Asn
ENST00000680924.1:c.*2255T>A	ENSP00000506031.1:n.*2255T>A
ENST00000681135.1:c.*2464T>A	ENSP00000506636.1:n.*2464T>A
ENST00000681298.1:n.1668T>A
ENST00000681454.1:c.*4091T>A	ENSP00000505763.1:n.*4091T>A
ENST00000277541.6:c.4855T>A	ENSP00000277541.6:p.Tyr1619Asn
ENST00000494783.1:n.10T>A
NM_017617.3:c.4855T>A	NP_060087.3:p.Tyr1619Asn
XM_011518717.1:c.4156T>A	XP_011517019.1:p.Tyr1386Asn
NM_017617.5:c.4855T>A MANE Select	NP_060087.3:p.Tyr1619Asn
XM_011518717.2:c.4132T>A	XP_011517019.2:p.Tyr1378Asn