Canonical Allele Identifier: CA5340038

Gene: NOTCH1

Linked Data

• dbSNP Id: rs778281713
• ExAC: 9:139393533 C / T
• gnomAD v2: 9-139393533-C-T
• gnomAD v3: 9-136499081-C-T
• gnomAD v4: 9-136499081-C-T
• MyVariant Identifiers: chr9:g.139393533C>T (hg19) ; chr9:g.136499081C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136499081C>T , CM000671.2:g.136499081C>T	GRCh38
NC_000009.11:g.139393533C>T , CM000671.1:g.139393533C>T	GRCh37
NC_000009.10:g.138513354C>T	NCBI36
NG_007458.1:g.51706G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6082+31G>A MANE Select	ENSP00000498587.1:n.6082+31G>A
ENST00000679595.1:c.*1122+31G>A	ENSP00000506241.1:n.*1122+31G>A
ENST00000679969.1:n.2594G>A
ENST00000680003.1:n.2414+31G>A
ENST00000680133.1:c.5968+31G>A	ENSP00000505319.1:n.5968+31G>A
ENST00000680218.1:c.5962+31G>A	ENSP00000505339.1:n.5962+31G>A
ENST00000680668.1:c.5968+31G>A	ENSP00000506336.1:n.5968+31G>A
ENST00000680778.1:c.3679+31G>A	ENSP00000506033.1:n.3679+31G>A
ENST00000680924.1:c.*3482+31G>A	ENSP00000506031.1:n.*3482+31G>A
ENST00000681135.1:c.*3691+31G>A	ENSP00000506636.1:n.*3691+31G>A
ENST00000681298.1:n.4187+31G>A
ENST00000681454.1:c.*5318+31G>A	ENSP00000505763.1:n.*5318+31G>A
ENST00000277541.6:c.6082+31G>A	ENSP00000277541.6:n.6082+31G>A
NM_017617.3:c.6082+31G>A	NP_060087.3:n.6082+31G>A
XM_011518717.1:c.5383+31G>A	XP_011517019.1:n.5383+31G>A
NM_017617.5:c.6082+31G>A MANE Select	NP_060087.3:n.6082+31G>A
XM_011518717.2:c.5359+31G>A	XP_011517019.2:n.5359+31G>A