Canonical Allele Identifier: CA375631304

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133318032
• MyVariant Identifiers: chr9:g.139391641G>C (hg19) ; chr9:g.136497189G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497189G>C , CM000671.2:g.136497189G>C	GRCh38
NC_000009.11:g.139391641G>C , CM000671.1:g.139391641G>C	GRCh37
NC_000009.10:g.138511462G>C	NCBI36
NG_007458.1:g.53598C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6550C>G MANE Select	ENSP00000498587.1:p.Gln2184Glu
ENST00000679595.1:c.*1590C>G	ENSP00000506241.1:n.*1590C>G
ENST00000679969.1:n.3146C>G
ENST00000680003.1:n.2882C>G
ENST00000680133.1:c.6436C>G	ENSP00000505319.1:p.Gln2146Glu
ENST00000680218.1:c.6430C>G	ENSP00000505339.1:p.Gln2144Glu
ENST00000680668.1:c.6436C>G	ENSP00000506336.1:p.Gln2146Glu
ENST00000680778.1:c.4147C>G	ENSP00000506033.1:p.Gln1383Glu
ENST00000680924.1:c.*3950C>G	ENSP00000506031.1:n.*3950C>G
ENST00000681135.1:c.*4159C>G	ENSP00000506636.1:n.*4159C>G
ENST00000681298.1:n.4655C>G
ENST00000681454.1:c.*5786C>G	ENSP00000505763.1:n.*5786C>G
ENST00000277541.6:c.6550C>G	ENSP00000277541.6:p.Gln2184Glu
NM_017617.3:c.6550C>G	NP_060087.3:p.Gln2184Glu
XM_011518717.1:c.5851C>G	XP_011517019.1:p.Gln1951Glu
NM_017617.5:c.6550C>G MANE Select	NP_060087.3:p.Gln2184Glu
XM_011518717.2:c.5827C>G	XP_011517019.2:p.Gln1943Glu