Canonical Allele Identifier: CA375631533

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133318324
• MyVariant Identifiers: chr9:g.139391705G>T (hg19) ; chr9:g.136497253G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497253G>T , CM000671.2:g.136497253G>T	GRCh38
NC_000009.11:g.139391705G>T , CM000671.1:g.139391705G>T	GRCh37
NC_000009.10:g.138511526G>T	NCBI36
NG_007458.1:g.53534C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6486C>A MANE Select	ENSP00000498587.1:p.Ser2162Arg
ENST00000679595.1:c.*1526C>A	ENSP00000506241.1:n.*1526C>A
ENST00000679969.1:n.3082C>A
ENST00000680003.1:n.2818C>A
ENST00000680133.1:c.6372C>A	ENSP00000505319.1:p.Ser2124Arg
ENST00000680218.1:c.6366C>A	ENSP00000505339.1:p.Ser2122Arg
ENST00000680668.1:c.6372C>A	ENSP00000506336.1:p.Ser2124Arg
ENST00000680778.1:c.4083C>A	ENSP00000506033.1:p.Ser1361Arg
ENST00000680924.1:c.*3886C>A	ENSP00000506031.1:n.*3886C>A
ENST00000681135.1:c.*4095C>A	ENSP00000506636.1:n.*4095C>A
ENST00000681298.1:n.4591C>A
ENST00000681454.1:c.*5722C>A	ENSP00000505763.1:n.*5722C>A
ENST00000277541.6:c.6486C>A	ENSP00000277541.6:p.Ser2162Arg
NM_017617.3:c.6486C>A	NP_060087.3:p.Ser2162Arg
XM_011518717.1:c.5787C>A	XP_011517019.1:p.Ser1929Arg
NM_017617.5:c.6486C>A MANE Select	NP_060087.3:p.Ser2162Arg
XM_011518717.2:c.5763C>A	XP_011517019.2:p.Ser1921Arg