Canonical Allele Identifier: CA375644051

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133335713
• gnomAD v4: 9-136504692-C-T
• MyVariant Identifiers: chr9:g.139399144C>T (hg19) ; chr9:g.136504692C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504692C>T , CM000671.2:g.136504692C>T	GRCh38
NC_000009.11:g.139399144C>T , CM000671.1:g.139399144C>T	GRCh37
NC_000009.10:g.138518965C>T	NCBI36
NG_007458.1:g.46095G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2806G>A
ENST00000651671.1:c.4999G>A MANE Select	ENSP00000498587.1:p.Asp1667Asn
ENST00000679595.1:c.4999G>A	ENSP00000506241.1:p.Asp1667Asn
ENST00000680133.1:c.4885G>A	ENSP00000505319.1:p.Asp1629Asn
ENST00000680218.1:c.4879G>A	ENSP00000505339.1:p.Asp1627Asn
ENST00000680668.1:c.4885G>A	ENSP00000506336.1:p.Asp1629Asn
ENST00000680778.1:c.2596G>A	ENSP00000506033.1:p.Asp866Asn
ENST00000680924.1:c.*2399G>A	ENSP00000506031.1:n.*2399G>A
ENST00000681135.1:c.*2608G>A	ENSP00000506636.1:n.*2608G>A
ENST00000681298.1:n.1812G>A
ENST00000681454.1:c.*4235G>A	ENSP00000505763.1:n.*4235G>A
ENST00000277541.6:c.4999G>A	ENSP00000277541.6:p.Asp1667Asn
ENST00000494783.1:n.154G>A
NM_017617.3:c.4999G>A	NP_060087.3:p.Asp1667Asn
XM_011518717.1:c.4300G>A	XP_011517019.1:p.Asp1434Asn
NM_017617.5:c.4999G>A MANE Select	NP_060087.3:p.Asp1667Asn
XM_011518717.2:c.4276G>A	XP_011517019.2:p.Asp1426Asn