Canonical Allele Identifier: CA375633920

Gene: NOTCH1

Linked Data

• dbSNP Id: rs980956509
• gnomAD v4: 9-136498943-C-T
• MyVariant Identifiers: chr9:g.139393395C>T (hg19) ; chr9:g.136498943C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136498943C>T , CM000671.2:g.136498943C>T	GRCh38
NC_000009.11:g.139393395C>T , CM000671.1:g.139393395C>T	GRCh37
NC_000009.10:g.138513216C>T	NCBI36
NG_007458.1:g.51844G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6136G>A MANE Select	ENSP00000498587.1:p.Val2046Met
ENST00000679595.1:c.*1176G>A	ENSP00000506241.1:n.*1176G>A
ENST00000679969.1:n.2732G>A
ENST00000680003.1:n.2468G>A
ENST00000680133.1:c.6022G>A	ENSP00000505319.1:p.Val2008Met
ENST00000680218.1:c.6016G>A	ENSP00000505339.1:p.Val2006Met
ENST00000680668.1:c.6022G>A	ENSP00000506336.1:p.Val2008Met
ENST00000680778.1:c.3733G>A	ENSP00000506033.1:p.Val1245Met
ENST00000680924.1:c.*3536G>A	ENSP00000506031.1:n.*3536G>A
ENST00000681135.1:c.*3745G>A	ENSP00000506636.1:n.*3745G>A
ENST00000681298.1:n.4241G>A
ENST00000681454.1:c.*5372G>A	ENSP00000505763.1:n.*5372G>A
ENST00000277541.6:c.6136G>A	ENSP00000277541.6:p.Val2046Met
NM_017617.3:c.6136G>A	NP_060087.3:p.Val2046Met
XM_011518717.1:c.5437G>A	XP_011517019.1:p.Val1813Met
NM_017617.5:c.6136G>A MANE Select	NP_060087.3:p.Val2046Met
XM_011518717.2:c.5413G>A	XP_011517019.2:p.Val1805Met