Canonical Allele Identifier: CA375631896

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139391824G>C (hg19) ; chr9:g.136497372G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497372G>C , CM000671.2:g.136497372G>C	GRCh38
NC_000009.11:g.139391824G>C , CM000671.1:g.139391824G>C	GRCh37
NC_000009.10:g.138511645G>C	NCBI36
NG_007458.1:g.53415C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6367C>G MANE Select	ENSP00000498587.1:p.Gln2123Glu
ENST00000679595.1:c.*1407C>G	ENSP00000506241.1:n.*1407C>G
ENST00000679969.1:n.2963C>G
ENST00000680003.1:n.2699C>G
ENST00000680133.1:c.6253C>G	ENSP00000505319.1:p.Gln2085Glu
ENST00000680218.1:c.6247C>G	ENSP00000505339.1:p.Gln2083Glu
ENST00000680668.1:c.6253C>G	ENSP00000506336.1:p.Gln2085Glu
ENST00000680778.1:c.3964C>G	ENSP00000506033.1:p.Gln1322Glu
ENST00000680924.1:c.*3767C>G	ENSP00000506031.1:n.*3767C>G
ENST00000681135.1:c.*3976C>G	ENSP00000506636.1:n.*3976C>G
ENST00000681298.1:n.4472C>G
ENST00000681454.1:c.*5603C>G	ENSP00000505763.1:n.*5603C>G
ENST00000277541.6:c.6367C>G	ENSP00000277541.6:p.Gln2123Glu
NM_017617.3:c.6367C>G	NP_060087.3:p.Gln2123Glu
XM_011518717.1:c.5668C>G	XP_011517019.1:p.Gln1890Glu
NM_017617.5:c.6367C>G MANE Select	NP_060087.3:p.Gln2123Glu
XM_011518717.2:c.5644C>G	XP_011517019.2:p.Gln1882Glu