Canonical Allele Identifier: CA375644805

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139399316G>T (hg19) ; chr9:g.136504864G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504864G>T , CM000671.2:g.136504864G>T	GRCh38
NC_000009.11:g.139399316G>T , CM000671.1:g.139399316G>T	GRCh37
NC_000009.10:g.138519137G>T	NCBI36
NG_007458.1:g.45923C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2634C>A
ENST00000651671.1:c.4827C>A MANE Select	ENSP00000498587.1:p.Asp1609Glu
ENST00000679595.1:c.4827C>A	ENSP00000506241.1:p.Asp1609Glu
ENST00000680133.1:c.4713C>A	ENSP00000505319.1:p.Asp1571Glu
ENST00000680218.1:c.4707C>A	ENSP00000505339.1:p.Asp1569Glu
ENST00000680668.1:c.4713C>A	ENSP00000506336.1:p.Asp1571Glu
ENST00000680778.1:c.2424C>A	ENSP00000506033.1:p.Asp808Glu
ENST00000680924.1:c.*2227C>A	ENSP00000506031.1:n.*2227C>A
ENST00000681135.1:c.*2436C>A	ENSP00000506636.1:n.*2436C>A
ENST00000681298.1:n.1640C>A
ENST00000681454.1:c.*4063C>A	ENSP00000505763.1:n.*4063C>A
ENST00000277541.6:c.4827C>A	ENSP00000277541.6:p.Asp1609Glu
NM_017617.3:c.4827C>A	NP_060087.3:p.Asp1609Glu
XM_011518717.1:c.4128C>A	XP_011517019.1:p.Asp1376Glu
NM_017617.5:c.4827C>A MANE Select	NP_060087.3:p.Asp1609Glu
XM_011518717.2:c.4104C>A	XP_011517019.2:p.Asp1368Glu