Canonical Allele Identifier: CA375631804

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139391773A>G (hg19) ; chr9:g.136497321A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497321A>G , CM000671.2:g.136497321A>G	GRCh38
NC_000009.11:g.139391773A>G , CM000671.1:g.139391773A>G	GRCh37
NC_000009.10:g.138511594A>G	NCBI36
NG_007458.1:g.53466T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6418T>C MANE Select	ENSP00000498587.1:p.Cys2140Arg
ENST00000679595.1:c.*1458T>C	ENSP00000506241.1:n.*1458T>C
ENST00000679969.1:n.3014T>C
ENST00000680003.1:n.2750T>C
ENST00000680133.1:c.6304T>C	ENSP00000505319.1:p.Cys2102Arg
ENST00000680218.1:c.6298T>C	ENSP00000505339.1:p.Cys2100Arg
ENST00000680668.1:c.6304T>C	ENSP00000506336.1:p.Cys2102Arg
ENST00000680778.1:c.4015T>C	ENSP00000506033.1:p.Cys1339Arg
ENST00000680924.1:c.*3818T>C	ENSP00000506031.1:n.*3818T>C
ENST00000681135.1:c.*4027T>C	ENSP00000506636.1:n.*4027T>C
ENST00000681298.1:n.4523T>C
ENST00000681454.1:c.*5654T>C	ENSP00000505763.1:n.*5654T>C
ENST00000277541.6:c.6418T>C	ENSP00000277541.6:p.Cys2140Arg
NM_017617.3:c.6418T>C	NP_060087.3:p.Cys2140Arg
XM_011518717.1:c.5719T>C	XP_011517019.1:p.Cys1907Arg
NM_017617.5:c.6418T>C MANE Select	NP_060087.3:p.Cys2140Arg
XM_011518717.2:c.5695T>C	XP_011517019.2:p.Cys1899Arg