Canonical Allele Identifier: CA375631386

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133318127
• MyVariant Identifiers: chr9:g.139391662T>C (hg19) ; chr9:g.136497210T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497210T>C , CM000671.2:g.136497210T>C	GRCh38
NC_000009.11:g.139391662T>C , CM000671.1:g.139391662T>C	GRCh37
NC_000009.10:g.138511483T>C	NCBI36
NG_007458.1:g.53577A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6529A>G MANE Select	ENSP00000498587.1:p.Lys2177Glu
ENST00000679595.1:c.*1569A>G	ENSP00000506241.1:n.*1569A>G
ENST00000679969.1:n.3125A>G
ENST00000680003.1:n.2861A>G
ENST00000680133.1:c.6415A>G	ENSP00000505319.1:p.Lys2139Glu
ENST00000680218.1:c.6409A>G	ENSP00000505339.1:p.Lys2137Glu
ENST00000680668.1:c.6415A>G	ENSP00000506336.1:p.Lys2139Glu
ENST00000680778.1:c.4126A>G	ENSP00000506033.1:p.Lys1376Glu
ENST00000680924.1:c.*3929A>G	ENSP00000506031.1:n.*3929A>G
ENST00000681135.1:c.*4138A>G	ENSP00000506636.1:n.*4138A>G
ENST00000681298.1:n.4634A>G
ENST00000681454.1:c.*5765A>G	ENSP00000505763.1:n.*5765A>G
ENST00000277541.6:c.6529A>G	ENSP00000277541.6:p.Lys2177Glu
NM_017617.3:c.6529A>G	NP_060087.3:p.Lys2177Glu
XM_011518717.1:c.5830A>G	XP_011517019.1:p.Lys1944Glu
NM_017617.5:c.6529A>G MANE Select	NP_060087.3:p.Lys2177Glu
XM_011518717.2:c.5806A>G	XP_011517019.2:p.Lys1936Glu