Canonical Allele Identifier: CA12976359
Gene: NOTCH1 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.136494732A>G
GRCh37 chr9:g.139389184A>G
gnomAD v2:
9:139389184 A / G
gnomAD v3:
9:136494732 A / G
gnomAD v4:
chr9-136494732-A-G
Joint Max Group AF 0.75539853 (EAS)
Genomes Max Group AF 0.70503956 (EAS)
Exomes Max Group AF 0.76329413 (EAS)
ClinVar RCV:
RCV001709195
ClinVar Variation:
1288748
dbSNP:
6563
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136494732A>G , CM000671.2:g.136494732A>G GRCh38
NC_000009.11:g.139389184A>G , CM000671.1:g.139389184A>G GRCh37
NC_000009.10:g.138509005A>G NCBI36
NG_007458.1:g.56055T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000651671.1:c.*1339T>C MANE Select ENSP00000498587.1:n.*1339T>C
ENST00000679595.1:c.*4047T>C ENSP00000506241.1:n.*4047T>C
ENST00000679969.1:n.5603T>C
ENST00000680003.1:n.5339T>C
ENST00000680133.1:c.*1339T>C ENSP00000505319.1:n.*1339T>C
ENST00000680218.1:c.*1339T>C ENSP00000505339.1:n.*1339T>C
ENST00000680668.1:c.*1339T>C ENSP00000506336.1:n.*1339T>C
ENST00000680778.1:c.*1339T>C ENSP00000506033.1:n.*1339T>C
ENST00000680924.1:c.*6407T>C ENSP00000506031.1:n.*6407T>C
ENST00000681135.1:c.*6616T>C ENSP00000506636.1:n.*6616T>C
ENST00000681454.1:c.*8243T>C ENSP00000505763.1:n.*8243T>C
ENST00000277541.6:c.*1339T>C ENSP00000277541.6:n.*1339T>C
NM_017617.3:c.9007T>C NP_060087.3:n.9007T>C
XM_011518717.1:c.*1339T>C XP_011517019.1:n.*1339T>C
NM_017617.5:c.*1339T>C MANE Select NP_060087.3:n.*1339T>C
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