Canonical Allele Identifier: CA375644886

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133336665
• gnomAD v4: 9-136504883-T-A
• MyVariant Identifiers: chr9:g.139399335T>A (hg19) ; chr9:g.136504883T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504883T>A , CM000671.2:g.136504883T>A	GRCh38
NC_000009.11:g.139399335T>A , CM000671.1:g.139399335T>A	GRCh37
NC_000009.10:g.138519156T>A	NCBI36
NG_007458.1:g.45904A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2615A>T
ENST00000651671.1:c.4808A>T MANE Select	ENSP00000498587.1:p.Asn1603Ile
ENST00000679595.1:c.4808A>T	ENSP00000506241.1:p.Asn1603Ile
ENST00000680133.1:c.4694A>T	ENSP00000505319.1:p.Asn1565Ile
ENST00000680218.1:c.4688A>T	ENSP00000505339.1:p.Asn1563Ile
ENST00000680668.1:c.4694A>T	ENSP00000506336.1:p.Asn1565Ile
ENST00000680778.1:c.2405A>T	ENSP00000506033.1:p.Asn802Ile
ENST00000680924.1:c.*2208A>T	ENSP00000506031.1:n.*2208A>T
ENST00000681135.1:c.*2417A>T	ENSP00000506636.1:n.*2417A>T
ENST00000681298.1:n.1621A>T
ENST00000681454.1:c.*4044A>T	ENSP00000505763.1:n.*4044A>T
ENST00000277541.6:c.4808A>T	ENSP00000277541.6:p.Asn1603Ile
NM_017617.3:c.4808A>T	NP_060087.3:p.Asn1603Ile
XM_011518717.1:c.4109A>T	XP_011517019.1:p.Asn1370Ile
NM_017617.5:c.4808A>T MANE Select	NP_060087.3:p.Asn1603Ile
XM_011518717.2:c.4085A>T	XP_011517019.2:p.Asn1362Ile