Canonical Allele Identifier: CA201643964

Gene: NOTCH1

Linked Data

• dbSNP Id: rs934570448
• gnomAD v2: 9-139399376-G-A
• gnomAD v3: 9-136504924-G-A
• gnomAD v4: 9-136504924-G-A
• MyVariant Identifiers: chr9:g.139399376G>A (hg19) ; chr9:g.136504924G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504924G>A , CM000671.2:g.136504924G>A	GRCh38
NC_000009.11:g.139399376G>A , CM000671.1:g.139399376G>A	GRCh37
NC_000009.10:g.138519197G>A	NCBI36
NG_007458.1:g.45863C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2574C>T
ENST00000651671.1:c.4767C>T MANE Select	ENSP00000498587.1:p.Ser1589=
ENST00000679595.1:c.4767C>T	ENSP00000506241.1:p.Ser1589=
ENST00000680133.1:c.4653C>T	ENSP00000505319.1:p.Ser1551=
ENST00000680218.1:c.4647C>T	ENSP00000505339.1:p.Ser1549=
ENST00000680668.1:c.4653C>T	ENSP00000506336.1:p.Ser1551=
ENST00000680778.1:c.2364C>T	ENSP00000506033.1:p.Ser788=
ENST00000680924.1:c.*2167C>T	ENSP00000506031.1:n.*2167C>T
ENST00000681135.1:c.*2376C>T	ENSP00000506636.1:n.*2376C>T
ENST00000681298.1:n.1580C>T
ENST00000681454.1:c.*4003C>T	ENSP00000505763.1:n.*4003C>T
ENST00000277541.6:c.4767C>T	ENSP00000277541.6:p.Ser1589=
NM_017617.3:c.4767C>T	NP_060087.3:p.Ser1589=
XM_011518717.1:c.4068C>T	XP_011517019.1:p.Ser1356=
NM_017617.5:c.4767C>T MANE Select	NP_060087.3:p.Ser1589=
XM_011518717.2:c.4044C>T	XP_011517019.2:p.Ser1348=