Canonical Allele Identifier: CA375631719

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139391752C>G (hg19) ; chr9:g.136497300C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497300C>G , CM000671.2:g.136497300C>G	GRCh38
NC_000009.11:g.139391752C>G , CM000671.1:g.139391752C>G	GRCh37
NC_000009.10:g.138511573C>G	NCBI36
NG_007458.1:g.53487G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6439G>C MANE Select	ENSP00000498587.1:p.Gly2147Arg
ENST00000679595.1:c.*1479G>C	ENSP00000506241.1:n.*1479G>C
ENST00000679969.1:n.3035G>C
ENST00000680003.1:n.2771G>C
ENST00000680133.1:c.6325G>C	ENSP00000505319.1:p.Gly2109Arg
ENST00000680218.1:c.6319G>C	ENSP00000505339.1:p.Gly2107Arg
ENST00000680668.1:c.6325G>C	ENSP00000506336.1:p.Gly2109Arg
ENST00000680778.1:c.4036G>C	ENSP00000506033.1:p.Gly1346Arg
ENST00000680924.1:c.*3839G>C	ENSP00000506031.1:n.*3839G>C
ENST00000681135.1:c.*4048G>C	ENSP00000506636.1:n.*4048G>C
ENST00000681298.1:n.4544G>C
ENST00000681454.1:c.*5675G>C	ENSP00000505763.1:n.*5675G>C
ENST00000277541.6:c.6439G>C	ENSP00000277541.6:p.Gly2147Arg
NM_017617.3:c.6439G>C	NP_060087.3:p.Gly2147Arg
XM_011518717.1:c.5740G>C	XP_011517019.1:p.Gly1914Arg
NM_017617.5:c.6439G>C MANE Select	NP_060087.3:p.Gly2147Arg
XM_011518717.2:c.5716G>C	XP_011517019.2:p.Gly1906Arg