Canonical Allele Identifier: CA375631240

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139391626A>G (hg19) ; chr9:g.136497174A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497174A>G , CM000671.2:g.136497174A>G	GRCh38
NC_000009.11:g.139391626A>G , CM000671.1:g.139391626A>G	GRCh37
NC_000009.10:g.138511447A>G	NCBI36
NG_007458.1:g.53613T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6565T>C MANE Select	ENSP00000498587.1:p.Cys2189Arg
ENST00000679595.1:c.*1605T>C	ENSP00000506241.1:n.*1605T>C
ENST00000679969.1:n.3161T>C
ENST00000680003.1:n.2897T>C
ENST00000680133.1:c.6451T>C	ENSP00000505319.1:p.Cys2151Arg
ENST00000680218.1:c.6445T>C	ENSP00000505339.1:p.Cys2149Arg
ENST00000680668.1:c.6451T>C	ENSP00000506336.1:p.Cys2151Arg
ENST00000680778.1:c.4162T>C	ENSP00000506033.1:p.Cys1388Arg
ENST00000680924.1:c.*3965T>C	ENSP00000506031.1:n.*3965T>C
ENST00000681135.1:c.*4174T>C	ENSP00000506636.1:n.*4174T>C
ENST00000681298.1:n.4670T>C
ENST00000681454.1:c.*5801T>C	ENSP00000505763.1:n.*5801T>C
ENST00000277541.6:c.6565T>C	ENSP00000277541.6:p.Cys2189Arg
NM_017617.3:c.6565T>C	NP_060087.3:p.Cys2189Arg
XM_011518717.1:c.5866T>C	XP_011517019.1:p.Cys1956Arg
NM_017617.5:c.6565T>C MANE Select	NP_060087.3:p.Cys2189Arg
XM_011518717.2:c.5842T>C	XP_011517019.2:p.Cys1948Arg