Canonical Allele Identifier: CA5339901

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 2145423
• ClinVar RCV Id: RCV003071437
• dbSNP Id: rs776577038
• ExAC: 9:139391761 C / T
• gnomAD v2: 9-139391761-C-T
• gnomAD v3: 9-136497309-C-T
• gnomAD v4: 9-136497309-C-T
• MyVariant Identifiers: chr9:g.139391761C>T (hg19) ; chr9:g.136497309C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497309C>T , CM000671.2:g.136497309C>T	GRCh38
NC_000009.11:g.139391761C>T , CM000671.1:g.139391761C>T	GRCh37
NC_000009.10:g.138511582C>T	NCBI36
NG_007458.1:g.53478G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6430G>A MANE Select	ENSP00000498587.1:p.Gly2144Ser
ENST00000679595.1:c.*1470G>A	ENSP00000506241.1:n.*1470G>A
ENST00000679969.1:n.3026G>A
ENST00000680003.1:n.2762G>A
ENST00000680133.1:c.6316G>A	ENSP00000505319.1:p.Gly2106Ser
ENST00000680218.1:c.6310G>A	ENSP00000505339.1:p.Gly2104Ser
ENST00000680668.1:c.6316G>A	ENSP00000506336.1:p.Gly2106Ser
ENST00000680778.1:c.4027G>A	ENSP00000506033.1:p.Gly1343Ser
ENST00000680924.1:c.*3830G>A	ENSP00000506031.1:n.*3830G>A
ENST00000681135.1:c.*4039G>A	ENSP00000506636.1:n.*4039G>A
ENST00000681298.1:n.4535G>A
ENST00000681454.1:c.*5666G>A	ENSP00000505763.1:n.*5666G>A
ENST00000277541.6:c.6430G>A	ENSP00000277541.6:p.Gly2144Ser
NM_017617.3:c.6430G>A	NP_060087.3:p.Gly2144Ser
XM_011518717.1:c.5731G>A	XP_011517019.1:p.Gly1911Ser
NM_017617.5:c.6430G>A MANE Select	NP_060087.3:p.Gly2144Ser
XM_011518717.2:c.5707G>A	XP_011517019.2:p.Gly1903Ser