Canonical Allele Identifier: CA375562850

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139412220C>A (hg19) ; chr9:g.136517768C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136517768C>A , CM000671.2:g.136517768C>A	GRCh38
NC_000009.11:g.139412220C>A , CM000671.1:g.139412220C>A	GRCh37
NC_000009.10:g.138532041C>A	NCBI36
NG_007458.1:g.33019G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.1425G>T MANE Select	ENSP00000498587.1:p.Gln475His
ENST00000679595.1:c.1425G>T	ENSP00000506241.1:p.Gln475His
ENST00000680133.1:c.1425G>T	ENSP00000505319.1:p.Gln475His
ENST00000680218.1:c.1425G>T	ENSP00000505339.1:p.Gln475His
ENST00000680668.1:c.1425G>T	ENSP00000506336.1:p.Gln475His
ENST00000680924.1:c.1425G>T	ENSP00000506031.1:p.Gln475His
ENST00000681135.1:c.1425G>T	ENSP00000506636.1:p.Gln475His
ENST00000681454.1:c.*661G>T	ENSP00000505763.1:n.*661G>T
ENST00000277541.6:c.1425G>T	ENSP00000277541.6:p.Gln475His
NM_017617.3:c.1425G>T	NP_060087.3:p.Gln475His
XM_011518717.1:c.726G>T	XP_011517019.1:p.Gln242His
NM_017617.5:c.1425G>T MANE Select	NP_060087.3:p.Gln475His
XM_011518717.2:c.702G>T	XP_011517019.2:p.Gln234His