Canonical Allele Identifier: CA375631162

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1842929844
• gnomAD v4: 9-136497153-T-C
• MyVariant Identifiers: chr9:g.139391605T>C (hg19) ; chr9:g.136497153T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497153T>C , CM000671.2:g.136497153T>C	GRCh38
NC_000009.11:g.139391605T>C , CM000671.1:g.139391605T>C	GRCh37
NC_000009.10:g.138511426T>C	NCBI36
NG_007458.1:g.53634A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6586A>G MANE Select	ENSP00000498587.1:p.Met2196Val
ENST00000679595.1:c.*1626A>G	ENSP00000506241.1:n.*1626A>G
ENST00000679969.1:n.3182A>G
ENST00000680003.1:n.2918A>G
ENST00000680133.1:c.6472A>G	ENSP00000505319.1:p.Met2158Val
ENST00000680218.1:c.6466A>G	ENSP00000505339.1:p.Met2156Val
ENST00000680668.1:c.6472A>G	ENSP00000506336.1:p.Met2158Val
ENST00000680778.1:c.4183A>G	ENSP00000506033.1:p.Met1395Val
ENST00000680924.1:c.*3986A>G	ENSP00000506031.1:n.*3986A>G
ENST00000681135.1:c.*4195A>G	ENSP00000506636.1:n.*4195A>G
ENST00000681298.1:n.4691A>G
ENST00000681454.1:c.*5822A>G	ENSP00000505763.1:n.*5822A>G
ENST00000277541.6:c.6586A>G	ENSP00000277541.6:p.Met2196Val
NM_017617.3:c.6586A>G	NP_060087.3:p.Met2196Val
XM_011518717.1:c.5887A>G	XP_011517019.1:p.Met1963Val
NM_017617.5:c.6586A>G MANE Select	NP_060087.3:p.Met2196Val
XM_011518717.2:c.5863A>G	XP_011517019.2:p.Met1955Val