Canonical Allele Identifier: CA375634275

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 1484779
• ClinVar RCV Id: RCV002008167
• dbSNP Id: rs1181025067
• gnomAD v2: 9-139393579-C-T
• gnomAD v3: 9-136499127-C-T
• gnomAD v4: 9-136499127-C-T
• MyVariant Identifiers: chr9:g.139393579C>T (hg19) ; chr9:g.136499127C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136499127C>T , CM000671.2:g.136499127C>T	GRCh38
NC_000009.11:g.139393579C>T , CM000671.1:g.139393579C>T	GRCh37
NC_000009.10:g.138513400C>T	NCBI36
NG_007458.1:g.51660G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6067G>A MANE Select	ENSP00000498587.1:p.Ala2023Thr
ENST00000679595.1:c.*1107G>A	ENSP00000506241.1:n.*1107G>A
ENST00000679969.1:n.2548G>A
ENST00000680003.1:n.2399G>A
ENST00000680133.1:c.5953G>A	ENSP00000505319.1:p.Ala1985Thr
ENST00000680218.1:c.5947G>A	ENSP00000505339.1:p.Ala1983Thr
ENST00000680668.1:c.5953G>A	ENSP00000506336.1:p.Ala1985Thr
ENST00000680778.1:c.3664G>A	ENSP00000506033.1:p.Ala1222Thr
ENST00000680924.1:c.*3467G>A	ENSP00000506031.1:n.*3467G>A
ENST00000681135.1:c.*3676G>A	ENSP00000506636.1:n.*3676G>A
ENST00000681298.1:n.4172G>A
ENST00000681454.1:c.*5303G>A	ENSP00000505763.1:n.*5303G>A
ENST00000277541.6:c.6067G>A	ENSP00000277541.6:p.Ala2023Thr
NM_017617.3:c.6067G>A	NP_060087.3:p.Ala2023Thr
XM_011518717.1:c.5368G>A	XP_011517019.1:p.Ala1790Thr
NM_017617.5:c.6067G>A MANE Select	NP_060087.3:p.Ala2023Thr
XM_011518717.2:c.5344G>A	XP_011517019.2:p.Ala1782Thr