Canonical Allele Identifier: CA375644148

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133335801
• gnomAD v4: 9-136504713-C-T
• MyVariant Identifiers: chr9:g.139399165C>T (hg19) ; chr9:g.136504713C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504713C>T , CM000671.2:g.136504713C>T	GRCh38
NC_000009.11:g.139399165C>T , CM000671.1:g.139399165C>T	GRCh37
NC_000009.10:g.138518986C>T	NCBI36
NG_007458.1:g.46074G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2785G>A
ENST00000651671.1:c.4978G>A MANE Select	ENSP00000498587.1:p.Gly1660Arg
ENST00000679595.1:c.4978G>A	ENSP00000506241.1:p.Gly1660Arg
ENST00000680133.1:c.4864G>A	ENSP00000505319.1:p.Gly1622Arg
ENST00000680218.1:c.4858G>A	ENSP00000505339.1:p.Gly1620Arg
ENST00000680668.1:c.4864G>A	ENSP00000506336.1:p.Gly1622Arg
ENST00000680778.1:c.2575G>A	ENSP00000506033.1:p.Gly859Arg
ENST00000680924.1:c.*2378G>A	ENSP00000506031.1:n.*2378G>A
ENST00000681135.1:c.*2587G>A	ENSP00000506636.1:n.*2587G>A
ENST00000681298.1:n.1791G>A
ENST00000681454.1:c.*4214G>A	ENSP00000505763.1:n.*4214G>A
ENST00000277541.6:c.4978G>A	ENSP00000277541.6:p.Gly1660Arg
ENST00000494783.1:n.133G>A
NM_017617.3:c.4978G>A	NP_060087.3:p.Gly1660Arg
XM_011518717.1:c.4279G>A	XP_011517019.1:p.Gly1427Arg
NM_017617.5:c.4978G>A MANE Select	NP_060087.3:p.Gly1660Arg
XM_011518717.2:c.4255G>A	XP_011517019.2:p.Gly1419Arg