Canonical Allele Identifier: CA375631169

Gene: NOTCH1

Linked Data

• dbSNP Id: rs376422513
• gnomAD v4: 9-136497156-C-A
• MyVariant Identifiers: chr9:g.139391608C>A (hg19) ; chr9:g.136497156C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497156C>A , CM000671.2:g.136497156C>A	GRCh38
NC_000009.11:g.139391608C>A , CM000671.1:g.139391608C>A	GRCh37
NC_000009.10:g.138511429C>A	NCBI36
NG_007458.1:g.53631G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6583G>T MANE Select	ENSP00000498587.1:p.Gly2195Cys
ENST00000679595.1:c.*1623G>T	ENSP00000506241.1:n.*1623G>T
ENST00000679969.1:n.3179G>T
ENST00000680003.1:n.2915G>T
ENST00000680133.1:c.6469G>T	ENSP00000505319.1:p.Gly2157Cys
ENST00000680218.1:c.6463G>T	ENSP00000505339.1:p.Gly2155Cys
ENST00000680668.1:c.6469G>T	ENSP00000506336.1:p.Gly2157Cys
ENST00000680778.1:c.4180G>T	ENSP00000506033.1:p.Gly1394Cys
ENST00000680924.1:c.*3983G>T	ENSP00000506031.1:n.*3983G>T
ENST00000681135.1:c.*4192G>T	ENSP00000506636.1:n.*4192G>T
ENST00000681298.1:n.4688G>T
ENST00000681454.1:c.*5819G>T	ENSP00000505763.1:n.*5819G>T
ENST00000277541.6:c.6583G>T	ENSP00000277541.6:p.Gly2195Cys
NM_017617.3:c.6583G>T	NP_060087.3:p.Gly2195Cys
XM_011518717.1:c.5884G>T	XP_011517019.1:p.Gly1962Cys
NM_017617.5:c.6583G>T MANE Select	NP_060087.3:p.Gly2195Cys
XM_011518717.2:c.5860G>T	XP_011517019.2:p.Gly1954Cys