Canonical Allele Identifier: CA375634414

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139393610C>G (hg19) ; chr9:g.136499158C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136499158C>G , CM000671.2:g.136499158C>G	GRCh38
NC_000009.11:g.139393610C>G , CM000671.1:g.139393610C>G	GRCh37
NC_000009.10:g.138513431C>G	NCBI36
NG_007458.1:g.51629G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6036G>C MANE Select	ENSP00000498587.1:p.Glu2012Asp
ENST00000679595.1:c.*1076G>C	ENSP00000506241.1:n.*1076G>C
ENST00000679969.1:n.2517G>C
ENST00000680003.1:n.2368G>C
ENST00000680133.1:c.5922G>C	ENSP00000505319.1:p.Glu1974Asp
ENST00000680218.1:c.5916G>C	ENSP00000505339.1:p.Glu1972Asp
ENST00000680668.1:c.5922G>C	ENSP00000506336.1:p.Glu1974Asp
ENST00000680778.1:c.3633G>C	ENSP00000506033.1:p.Glu1211Asp
ENST00000680924.1:c.*3436G>C	ENSP00000506031.1:n.*3436G>C
ENST00000681135.1:c.*3645G>C	ENSP00000506636.1:n.*3645G>C
ENST00000681298.1:n.4141G>C
ENST00000681454.1:c.*5272G>C	ENSP00000505763.1:n.*5272G>C
ENST00000277541.6:c.6036G>C	ENSP00000277541.6:p.Glu2012Asp
NM_017617.3:c.6036G>C	NP_060087.3:p.Glu2012Asp
XM_011518717.1:c.5337G>C	XP_011517019.1:p.Glu1779Asp
NM_017617.5:c.6036G>C MANE Select	NP_060087.3:p.Glu2012Asp
XM_011518717.2:c.5313G>C	XP_011517019.2:p.Glu1771Asp