Canonical Allele Identifier: CA375631268

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139391632T>C (hg19) ; chr9:g.136497180T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497180T>C , CM000671.2:g.136497180T>C	GRCh38
NC_000009.11:g.139391632T>C , CM000671.1:g.139391632T>C	GRCh37
NC_000009.10:g.138511453T>C	NCBI36
NG_007458.1:g.53607A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6559A>G MANE Select	ENSP00000498587.1:p.Lys2187Glu
ENST00000679595.1:c.*1599A>G	ENSP00000506241.1:n.*1599A>G
ENST00000679969.1:n.3155A>G
ENST00000680003.1:n.2891A>G
ENST00000680133.1:c.6445A>G	ENSP00000505319.1:p.Lys2149Glu
ENST00000680218.1:c.6439A>G	ENSP00000505339.1:p.Lys2147Glu
ENST00000680668.1:c.6445A>G	ENSP00000506336.1:p.Lys2149Glu
ENST00000680778.1:c.4156A>G	ENSP00000506033.1:p.Lys1386Glu
ENST00000680924.1:c.*3959A>G	ENSP00000506031.1:n.*3959A>G
ENST00000681135.1:c.*4168A>G	ENSP00000506636.1:n.*4168A>G
ENST00000681298.1:n.4664A>G
ENST00000681454.1:c.*5795A>G	ENSP00000505763.1:n.*5795A>G
ENST00000277541.6:c.6559A>G	ENSP00000277541.6:p.Lys2187Glu
NM_017617.3:c.6559A>G	NP_060087.3:p.Lys2187Glu
XM_011518717.1:c.5860A>G	XP_011517019.1:p.Lys1954Glu
NM_017617.5:c.6559A>G MANE Select	NP_060087.3:p.Lys2187Glu
XM_011518717.2:c.5836A>G	XP_011517019.2:p.Lys1946Glu