Canonical Allele Identifier: CA375631171

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 2586759
• ClinVar RCV Id: RCV003341826
• dbSNP Id: rs376422513
• gnomAD v2: 9-139391608-C-G
• gnomAD v4: 9-136497156-C-G
• MyVariant Identifiers: chr9:g.139391608C>G (hg19) ; chr9:g.136497156C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6583G>C MANE Select	ENSP00000498587.1:p.Gly2195Arg
ENST00000679595.1:c.*1623G>C	ENSP00000506241.1:n.*1623G>C
ENST00000679969.1:n.3179G>C
ENST00000680003.1:n.2915G>C
ENST00000680133.1:c.6469G>C	ENSP00000505319.1:p.Gly2157Arg
ENST00000680218.1:c.6463G>C	ENSP00000505339.1:p.Gly2155Arg
ENST00000680668.1:c.6469G>C	ENSP00000506336.1:p.Gly2157Arg
ENST00000680778.1:c.4180G>C	ENSP00000506033.1:p.Gly1394Arg
ENST00000680924.1:c.*3983G>C	ENSP00000506031.1:n.*3983G>C
ENST00000681135.1:c.*4192G>C	ENSP00000506636.1:n.*4192G>C
ENST00000681298.1:n.4688G>C
ENST00000681454.1:c.*5819G>C	ENSP00000505763.1:n.*5819G>C
ENST00000277541.6:c.6583G>C	ENSP00000277541.6:p.Gly2195Arg
NM_017617.3:c.6583G>C	NP_060087.3:p.Gly2195Arg
XM_011518717.1:c.5884G>C	XP_011517019.1:p.Gly1962Arg
NM_017617.5:c.6583G>C MANE Select	NP_060087.3:p.Gly2195Arg
XM_011518717.2:c.5860G>C	XP_011517019.2:p.Gly1954Arg