Canonical Allele Identifier: CA5339925

Gene: NOTCH1

Linked Data

• dbSNP Id: rs766836819
• ExAC: 9:139391832 C / T
• gnomAD v2: 9-139391832-C-T
• gnomAD v4: 9-136497380-C-T
• MyVariant Identifiers: chr9:g.139391832C>T (hg19) ; chr9:g.136497380C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497380C>T , CM000671.2:g.136497380C>T	GRCh38
NC_000009.11:g.139391832C>T , CM000671.1:g.139391832C>T	GRCh37
NC_000009.10:g.138511653C>T	NCBI36
NG_007458.1:g.53407G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6359G>A MANE Select	ENSP00000498587.1:p.Arg2120His
ENST00000679595.1:c.*1399G>A	ENSP00000506241.1:n.*1399G>A
ENST00000679969.1:n.2955G>A
ENST00000680003.1:n.2691G>A
ENST00000680133.1:c.6245G>A	ENSP00000505319.1:p.Arg2082His
ENST00000680218.1:c.6239G>A	ENSP00000505339.1:p.Arg2080His
ENST00000680668.1:c.6245G>A	ENSP00000506336.1:p.Arg2082His
ENST00000680778.1:c.3956G>A	ENSP00000506033.1:p.Arg1319His
ENST00000680924.1:c.*3759G>A	ENSP00000506031.1:n.*3759G>A
ENST00000681135.1:c.*3968G>A	ENSP00000506636.1:n.*3968G>A
ENST00000681298.1:n.4464G>A
ENST00000681454.1:c.*5595G>A	ENSP00000505763.1:n.*5595G>A
ENST00000277541.6:c.6359G>A	ENSP00000277541.6:p.Arg2120His
NM_017617.3:c.6359G>A	NP_060087.3:p.Arg2120His
XM_011518717.1:c.5660G>A	XP_011517019.1:p.Arg1887His
NM_017617.5:c.6359G>A MANE Select	NP_060087.3:p.Arg2120His
XM_011518717.2:c.5636G>A	XP_011517019.2:p.Arg1879His