Canonical Allele Identifier: CA375631356

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 2632962
• ClinVar RCV Id: RCV004528743
• gnomAD v4: 9-136497201-T-C
• MyVariant Identifiers: chr9:g.139391653T>C (hg19) ; chr9:g.136497201T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497201T>C , CM000671.2:g.136497201T>C	GRCh38
NC_000009.11:g.139391653T>C , CM000671.1:g.139391653T>C	GRCh37
NC_000009.10:g.138511474T>C	NCBI36
NG_007458.1:g.53586A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6538A>G MANE Select	ENSP00000498587.1:p.Arg2180Gly
ENST00000679595.1:c.*1578A>G	ENSP00000506241.1:n.*1578A>G
ENST00000679969.1:n.3134A>G
ENST00000680003.1:n.2870A>G
ENST00000680133.1:c.6424A>G	ENSP00000505319.1:p.Arg2142Gly
ENST00000680218.1:c.6418A>G	ENSP00000505339.1:p.Arg2140Gly
ENST00000680668.1:c.6424A>G	ENSP00000506336.1:p.Arg2142Gly
ENST00000680778.1:c.4135A>G	ENSP00000506033.1:p.Arg1379Gly
ENST00000680924.1:c.*3938A>G	ENSP00000506031.1:n.*3938A>G
ENST00000681135.1:c.*4147A>G	ENSP00000506636.1:n.*4147A>G
ENST00000681298.1:n.4643A>G
ENST00000681454.1:c.*5774A>G	ENSP00000505763.1:n.*5774A>G
ENST00000277541.6:c.6538A>G	ENSP00000277541.6:p.Arg2180Gly
NM_017617.3:c.6538A>G	NP_060087.3:p.Arg2180Gly
XM_011518717.1:c.5839A>G	XP_011517019.1:p.Arg1947Gly
NM_017617.5:c.6538A>G MANE Select	NP_060087.3:p.Arg2180Gly
XM_011518717.2:c.5815A>G	XP_011517019.2:p.Arg1939Gly