Canonical Allele Identifier: CA375631234

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139391625C>G (hg19) ; chr9:g.136497173C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497173C>G , CM000671.2:g.136497173C>G	GRCh38
NC_000009.11:g.139391625C>G , CM000671.1:g.139391625C>G	GRCh37
NC_000009.10:g.138511446C>G	NCBI36
NG_007458.1:g.53614G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6566G>C MANE Select	ENSP00000498587.1:p.Cys2189Ser
ENST00000679595.1:c.*1606G>C	ENSP00000506241.1:n.*1606G>C
ENST00000679969.1:n.3162G>C
ENST00000680003.1:n.2898G>C
ENST00000680133.1:c.6452G>C	ENSP00000505319.1:p.Cys2151Ser
ENST00000680218.1:c.6446G>C	ENSP00000505339.1:p.Cys2149Ser
ENST00000680668.1:c.6452G>C	ENSP00000506336.1:p.Cys2151Ser
ENST00000680778.1:c.4163G>C	ENSP00000506033.1:p.Cys1388Ser
ENST00000680924.1:c.*3966G>C	ENSP00000506031.1:n.*3966G>C
ENST00000681135.1:c.*4175G>C	ENSP00000506636.1:n.*4175G>C
ENST00000681298.1:n.4671G>C
ENST00000681454.1:c.*5802G>C	ENSP00000505763.1:n.*5802G>C
ENST00000277541.6:c.6566G>C	ENSP00000277541.6:p.Cys2189Ser
NM_017617.3:c.6566G>C	NP_060087.3:p.Cys2189Ser
XM_011518717.1:c.5867G>C	XP_011517019.1:p.Cys1956Ser
NM_017617.5:c.6566G>C MANE Select	NP_060087.3:p.Cys2189Ser
XM_011518717.2:c.5843G>C	XP_011517019.2:p.Cys1948Ser