Canonical Allele Identifier: CA375631309

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1842930723
• gnomAD v3: 9-136497191-G-C
• gnomAD v4: 9-136497191-G-C
• MyVariant Identifiers: chr9:g.139391643G>C (hg19) ; chr9:g.136497191G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497191G>C , CM000671.2:g.136497191G>C	GRCh38
NC_000009.11:g.139391643G>C , CM000671.1:g.139391643G>C	GRCh37
NC_000009.10:g.138511464G>C	NCBI36
NG_007458.1:g.53596C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6548C>G MANE Select	ENSP00000498587.1:p.Ser2183Cys
ENST00000679595.1:c.*1588C>G	ENSP00000506241.1:n.*1588C>G
ENST00000679969.1:n.3144C>G
ENST00000680003.1:n.2880C>G
ENST00000680133.1:c.6434C>G	ENSP00000505319.1:p.Ser2145Cys
ENST00000680218.1:c.6428C>G	ENSP00000505339.1:p.Ser2143Cys
ENST00000680668.1:c.6434C>G	ENSP00000506336.1:p.Ser2145Cys
ENST00000680778.1:c.4145C>G	ENSP00000506033.1:p.Ser1382Cys
ENST00000680924.1:c.*3948C>G	ENSP00000506031.1:n.*3948C>G
ENST00000681135.1:c.*4157C>G	ENSP00000506636.1:n.*4157C>G
ENST00000681298.1:n.4653C>G
ENST00000681454.1:c.*5784C>G	ENSP00000505763.1:n.*5784C>G
ENST00000277541.6:c.6548C>G	ENSP00000277541.6:p.Ser2183Cys
NM_017617.3:c.6548C>G	NP_060087.3:p.Ser2183Cys
XM_011518717.1:c.5849C>G	XP_011517019.1:p.Ser1950Cys
NM_017617.5:c.6548C>G MANE Select	NP_060087.3:p.Ser2183Cys
XM_011518717.2:c.5825C>G	XP_011517019.2:p.Ser1942Cys