Canonical Allele Identifier: CA5339877

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 1011533
• ClinVar RCV Id: RCV001309345
• dbSNP Id: rs587778571
• ExAC: 9:139391655 C / G
• gnomAD v2: 9-139391655-C-G
• gnomAD v3: 9-136497203-C-G
• gnomAD v4: 9-136497203-C-G
• MyVariant Identifiers: chr9:g.139391655C>G (hg19) ; chr9:g.136497203C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497203C>G , CM000671.2:g.136497203C>G	GRCh38
NC_000009.11:g.139391655C>G , CM000671.1:g.139391655C>G	GRCh37
NC_000009.10:g.138511476C>G	NCBI36
NG_007458.1:g.53584G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6536G>C MANE Select	ENSP00000498587.1:p.Arg2179Pro
ENST00000679595.1:c.*1576G>C	ENSP00000506241.1:n.*1576G>C
ENST00000679969.1:n.3132G>C
ENST00000680003.1:n.2868G>C
ENST00000680133.1:c.6422G>C	ENSP00000505319.1:p.Arg2141Pro
ENST00000680218.1:c.6416G>C	ENSP00000505339.1:p.Arg2139Pro
ENST00000680668.1:c.6422G>C	ENSP00000506336.1:p.Arg2141Pro
ENST00000680778.1:c.4133G>C	ENSP00000506033.1:p.Arg1378Pro
ENST00000680924.1:c.*3936G>C	ENSP00000506031.1:n.*3936G>C
ENST00000681135.1:c.*4145G>C	ENSP00000506636.1:n.*4145G>C
ENST00000681298.1:n.4641G>C
ENST00000681454.1:c.*5772G>C	ENSP00000505763.1:n.*5772G>C
ENST00000277541.6:c.6536G>C	ENSP00000277541.6:p.Arg2179Pro
NM_017617.3:c.6536G>C	NP_060087.3:p.Arg2179Pro
XM_011518717.1:c.5837G>C	XP_011517019.1:p.Arg1946Pro
NM_017617.5:c.6536G>C MANE Select	NP_060087.3:p.Arg2179Pro
XM_011518717.2:c.5813G>C	XP_011517019.2:p.Arg1938Pro