Canonical Allele Identifier: CA375631631

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1035043614
• gnomAD v2: 9-139391728-C-G
• gnomAD v4: 9-136497276-C-G
• MyVariant Identifiers: chr9:g.139391728C>G (hg19) ; chr9:g.136497276C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497276C>G , CM000671.2:g.136497276C>G	GRCh38
NC_000009.11:g.139391728C>G , CM000671.1:g.139391728C>G	GRCh37
NC_000009.10:g.138511549C>G	NCBI36
NG_007458.1:g.53511G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6463G>C MANE Select	ENSP00000498587.1:p.Gly2155Arg
ENST00000679595.1:c.*1503G>C	ENSP00000506241.1:n.*1503G>C
ENST00000679969.1:n.3059G>C
ENST00000680003.1:n.2795G>C
ENST00000680133.1:c.6349G>C	ENSP00000505319.1:p.Gly2117Arg
ENST00000680218.1:c.6343G>C	ENSP00000505339.1:p.Gly2115Arg
ENST00000680668.1:c.6349G>C	ENSP00000506336.1:p.Gly2117Arg
ENST00000680778.1:c.4060G>C	ENSP00000506033.1:p.Gly1354Arg
ENST00000680924.1:c.*3863G>C	ENSP00000506031.1:n.*3863G>C
ENST00000681135.1:c.*4072G>C	ENSP00000506636.1:n.*4072G>C
ENST00000681298.1:n.4568G>C
ENST00000681454.1:c.*5699G>C	ENSP00000505763.1:n.*5699G>C
ENST00000277541.6:c.6463G>C	ENSP00000277541.6:p.Gly2155Arg
NM_017617.3:c.6463G>C	NP_060087.3:p.Gly2155Arg
XM_011518717.1:c.5764G>C	XP_011517019.1:p.Gly1922Arg
NM_017617.5:c.6463G>C MANE Select	NP_060087.3:p.Gly2155Arg
XM_011518717.2:c.5740G>C	XP_011517019.2:p.Gly1914Arg