Canonical Allele Identifier: CA375644156

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133335815
• gnomAD v4: 9-136504715-C-T
• COSMIC: COSM33753 ; COSM5711227
• MyVariant Identifiers: chr9:g.139399167C>T (hg19) ; chr9:g.136504715C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504715C>T , CM000671.2:g.136504715C>T	GRCh38
NC_000009.11:g.139399167C>T , CM000671.1:g.139399167C>T	GRCh37
NC_000009.10:g.138518988C>T	NCBI36
NG_007458.1:g.46072G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2783G>A
ENST00000651671.1:c.4976G>A MANE Select	ENSP00000498587.1:p.Gly1659Asp
ENST00000679595.1:c.4976G>A	ENSP00000506241.1:p.Gly1659Asp
ENST00000680133.1:c.4862G>A	ENSP00000505319.1:p.Gly1621Asp
ENST00000680218.1:c.4856G>A	ENSP00000505339.1:p.Gly1619Asp
ENST00000680668.1:c.4862G>A	ENSP00000506336.1:p.Gly1621Asp
ENST00000680778.1:c.2573G>A	ENSP00000506033.1:p.Gly858Asp
ENST00000680924.1:c.*2376G>A	ENSP00000506031.1:n.*2376G>A
ENST00000681135.1:c.*2585G>A	ENSP00000506636.1:n.*2585G>A
ENST00000681298.1:n.1789G>A
ENST00000681454.1:c.*4212G>A	ENSP00000505763.1:n.*4212G>A
ENST00000277541.6:c.4976G>A	ENSP00000277541.6:p.Gly1659Asp
ENST00000494783.1:n.131G>A
NM_017617.3:c.4976G>A	NP_060087.3:p.Gly1659Asp
XM_011518717.1:c.4277G>A	XP_011517019.1:p.Gly1426Asp
NM_017617.5:c.4976G>A MANE Select	NP_060087.3:p.Gly1659Asp
XM_011518717.2:c.4253G>A	XP_011517019.2:p.Gly1418Asp