Canonical Allele Identifier: CA375631457

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139391680T>G (hg19) ; chr9:g.136497228T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497228T>G , CM000671.2:g.136497228T>G	GRCh38
NC_000009.11:g.139391680T>G , CM000671.1:g.139391680T>G	GRCh37
NC_000009.10:g.138511501T>G	NCBI36
NG_007458.1:g.53559A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6511A>C MANE Select	ENSP00000498587.1:p.Lys2171Gln
ENST00000679595.1:c.*1551A>C	ENSP00000506241.1:n.*1551A>C
ENST00000679969.1:n.3107A>C
ENST00000680003.1:n.2843A>C
ENST00000680133.1:c.6397A>C	ENSP00000505319.1:p.Lys2133Gln
ENST00000680218.1:c.6391A>C	ENSP00000505339.1:p.Lys2131Gln
ENST00000680668.1:c.6397A>C	ENSP00000506336.1:p.Lys2133Gln
ENST00000680778.1:c.4108A>C	ENSP00000506033.1:p.Lys1370Gln
ENST00000680924.1:c.*3911A>C	ENSP00000506031.1:n.*3911A>C
ENST00000681135.1:c.*4120A>C	ENSP00000506636.1:n.*4120A>C
ENST00000681298.1:n.4616A>C
ENST00000681454.1:c.*5747A>C	ENSP00000505763.1:n.*5747A>C
ENST00000277541.6:c.6511A>C	ENSP00000277541.6:p.Lys2171Gln
NM_017617.3:c.6511A>C	NP_060087.3:p.Lys2171Gln
XM_011518717.1:c.5812A>C	XP_011517019.1:p.Lys1938Gln
NM_017617.5:c.6511A>C MANE Select	NP_060087.3:p.Lys2171Gln
XM_011518717.2:c.5788A>C	XP_011517019.2:p.Lys1930Gln