Canonical Allele Identifier: CA5340490

Gene: NOTCH1

Linked Data

• dbSNP Id: rs776162701
• ExAC: 9:139399201 C / T
• gnomAD v2: 9-139399201-C-T
• gnomAD v4: 9-136504749-C-T
• MyVariant Identifiers: chr9:g.139399201C>T (hg19) ; chr9:g.136504749C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504749C>T , CM000671.2:g.136504749C>T	GRCh38
NC_000009.11:g.139399201C>T , CM000671.1:g.139399201C>T	GRCh37
NC_000009.10:g.138519022C>T	NCBI36
NG_007458.1:g.46038G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2749G>A
ENST00000651671.1:c.4942G>A MANE Select	ENSP00000498587.1:p.Val1648Met
ENST00000679595.1:c.4942G>A	ENSP00000506241.1:p.Val1648Met
ENST00000680133.1:c.4828G>A	ENSP00000505319.1:p.Val1610Met
ENST00000680218.1:c.4822G>A	ENSP00000505339.1:p.Val1608Met
ENST00000680668.1:c.4828G>A	ENSP00000506336.1:p.Val1610Met
ENST00000680778.1:c.2539G>A	ENSP00000506033.1:p.Val847Met
ENST00000680924.1:c.*2342G>A	ENSP00000506031.1:n.*2342G>A
ENST00000681135.1:c.*2551G>A	ENSP00000506636.1:n.*2551G>A
ENST00000681298.1:n.1755G>A
ENST00000681454.1:c.*4178G>A	ENSP00000505763.1:n.*4178G>A
ENST00000277541.6:c.4942G>A	ENSP00000277541.6:p.Val1648Met
ENST00000494783.1:n.97G>A
NM_017617.3:c.4942G>A	NP_060087.3:p.Val1648Met
XM_011518717.1:c.4243G>A	XP_011517019.1:p.Val1415Met
NM_017617.5:c.4942G>A MANE Select	NP_060087.3:p.Val1648Met
XM_011518717.2:c.4219G>A	XP_011517019.2:p.Val1407Met