Canonical Allele Identifier: CA375631744

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 1753508
• ClinVar RCV Id: RCV002361751
• dbSNP Id: rs2133318625
• MyVariant Identifiers: chr9:g.139391758A>G (hg19) ; chr9:g.136497306A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497306A>G , CM000671.2:g.136497306A>G	GRCh38
NC_000009.11:g.139391758A>G , CM000671.1:g.139391758A>G	GRCh37
NC_000009.10:g.138511579A>G	NCBI36
NG_007458.1:g.53481T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6433T>C MANE Select	ENSP00000498587.1:p.Tyr2145His
ENST00000679595.1:c.*1473T>C	ENSP00000506241.1:n.*1473T>C
ENST00000679969.1:n.3029T>C
ENST00000680003.1:n.2765T>C
ENST00000680133.1:c.6319T>C	ENSP00000505319.1:p.Tyr2107His
ENST00000680218.1:c.6313T>C	ENSP00000505339.1:p.Tyr2105His
ENST00000680668.1:c.6319T>C	ENSP00000506336.1:p.Tyr2107His
ENST00000680778.1:c.4030T>C	ENSP00000506033.1:p.Tyr1344His
ENST00000680924.1:c.*3833T>C	ENSP00000506031.1:n.*3833T>C
ENST00000681135.1:c.*4042T>C	ENSP00000506636.1:n.*4042T>C
ENST00000681298.1:n.4538T>C
ENST00000681454.1:c.*5669T>C	ENSP00000505763.1:n.*5669T>C
ENST00000277541.6:c.6433T>C	ENSP00000277541.6:p.Tyr2145His
NM_017617.3:c.6433T>C	NP_060087.3:p.Tyr2145His
XM_011518717.1:c.5734T>C	XP_011517019.1:p.Tyr1912His
NM_017617.5:c.6433T>C MANE Select	NP_060087.3:p.Tyr2145His
XM_011518717.2:c.5710T>C	XP_011517019.2:p.Tyr1904His