Canonical Allele Identifier: CA5340055

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 1953024
• ClinVar RCV Id: RCV002672164
• dbSNP Id: rs3812597
• ExAC: 9:139393591 C / T
• gnomAD v2: 9-139393591-C-T
• gnomAD v3: 9-136499139-C-T
• gnomAD v4: 9-136499139-C-T
• COSMIC: COSM5989991 ; COSM5989992
• MyVariant Identifiers: chr9:g.139393591C>T (hg19) ; chr9:g.136499139C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136499139C>T , CM000671.2:g.136499139C>T	GRCh38
NC_000009.11:g.139393591C>T , CM000671.1:g.139393591C>T	GRCh37
NC_000009.10:g.138513412C>T	NCBI36
NG_007458.1:g.51648G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6055G>A MANE Select	ENSP00000498587.1:p.Ala2019Thr
ENST00000679595.1:c.*1095G>A	ENSP00000506241.1:n.*1095G>A
ENST00000679969.1:n.2536G>A
ENST00000680003.1:n.2387G>A
ENST00000680133.1:c.5941G>A	ENSP00000505319.1:p.Ala1981Thr
ENST00000680218.1:c.5935G>A	ENSP00000505339.1:p.Ala1979Thr
ENST00000680668.1:c.5941G>A	ENSP00000506336.1:p.Ala1981Thr
ENST00000680778.1:c.3652G>A	ENSP00000506033.1:p.Ala1218Thr
ENST00000680924.1:c.*3455G>A	ENSP00000506031.1:n.*3455G>A
ENST00000681135.1:c.*3664G>A	ENSP00000506636.1:n.*3664G>A
ENST00000681298.1:n.4160G>A
ENST00000681454.1:c.*5291G>A	ENSP00000505763.1:n.*5291G>A
ENST00000277541.6:c.6055G>A	ENSP00000277541.6:p.Ala2019Thr
NM_017617.3:c.6055G>A	NP_060087.3:p.Ala2019Thr
XM_011518717.1:c.5356G>A	XP_011517019.1:p.Ala1786Thr
NM_017617.5:c.6055G>A MANE Select	NP_060087.3:p.Ala2019Thr
XM_011518717.2:c.5332G>A	XP_011517019.2:p.Ala1778Thr