Canonical Allele Identifier: CA375631464

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139391683T>C (hg19) ; chr9:g.136497231T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497231T>C , CM000671.2:g.136497231T>C	GRCh38
NC_000009.11:g.139391683T>C , CM000671.1:g.139391683T>C	GRCh37
NC_000009.10:g.138511504T>C	NCBI36
NG_007458.1:g.53556A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6508A>G MANE Select	ENSP00000498587.1:p.Ser2170Gly
ENST00000679595.1:c.*1548A>G	ENSP00000506241.1:n.*1548A>G
ENST00000679969.1:n.3104A>G
ENST00000680003.1:n.2840A>G
ENST00000680133.1:c.6394A>G	ENSP00000505319.1:p.Ser2132Gly
ENST00000680218.1:c.6388A>G	ENSP00000505339.1:p.Ser2130Gly
ENST00000680668.1:c.6394A>G	ENSP00000506336.1:p.Ser2132Gly
ENST00000680778.1:c.4105A>G	ENSP00000506033.1:p.Ser1369Gly
ENST00000680924.1:c.*3908A>G	ENSP00000506031.1:n.*3908A>G
ENST00000681135.1:c.*4117A>G	ENSP00000506636.1:n.*4117A>G
ENST00000681298.1:n.4613A>G
ENST00000681454.1:c.*5744A>G	ENSP00000505763.1:n.*5744A>G
ENST00000277541.6:c.6508A>G	ENSP00000277541.6:p.Ser2170Gly
NM_017617.3:c.6508A>G	NP_060087.3:p.Ser2170Gly
XM_011518717.1:c.5809A>G	XP_011517019.1:p.Ser1937Gly
NM_017617.5:c.6508A>G MANE Select	NP_060087.3:p.Ser2170Gly
XM_011518717.2:c.5785A>G	XP_011517019.2:p.Ser1929Gly