Canonical Allele Identifier: CA375644353

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133336042
• MyVariant Identifiers: chr9:g.139399218T>C (hg19) ; chr9:g.136504766T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504766T>C , CM000671.2:g.136504766T>C	GRCh38
NC_000009.11:g.139399218T>C , CM000671.1:g.139399218T>C	GRCh37
NC_000009.10:g.138519039T>C	NCBI36
NG_007458.1:g.46021A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2732A>G
ENST00000651671.1:c.4925A>G MANE Select	ENSP00000498587.1:p.Asp1642Gly
ENST00000679595.1:c.4925A>G	ENSP00000506241.1:p.Asp1642Gly
ENST00000680133.1:c.4811A>G	ENSP00000505319.1:p.Asp1604Gly
ENST00000680218.1:c.4805A>G	ENSP00000505339.1:p.Asp1602Gly
ENST00000680668.1:c.4811A>G	ENSP00000506336.1:p.Asp1604Gly
ENST00000680778.1:c.2522A>G	ENSP00000506033.1:p.Asp841Gly
ENST00000680924.1:c.*2325A>G	ENSP00000506031.1:n.*2325A>G
ENST00000681135.1:c.*2534A>G	ENSP00000506636.1:n.*2534A>G
ENST00000681298.1:n.1738A>G
ENST00000681454.1:c.*4161A>G	ENSP00000505763.1:n.*4161A>G
ENST00000277541.6:c.4925A>G	ENSP00000277541.6:p.Asp1642Gly
ENST00000494783.1:n.80A>G
NM_017617.3:c.4925A>G	NP_060087.3:p.Asp1642Gly
XM_011518717.1:c.4226A>G	XP_011517019.1:p.Asp1409Gly
NM_017617.5:c.4925A>G MANE Select	NP_060087.3:p.Asp1642Gly
XM_011518717.2:c.4202A>G	XP_011517019.2:p.Asp1401Gly