Canonical Allele Identifier: CA375634093

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139393432G>T (hg19) ; chr9:g.136498980G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136498980G>T , CM000671.2:g.136498980G>T	GRCh38
NC_000009.11:g.139393432G>T , CM000671.1:g.139393432G>T	GRCh37
NC_000009.10:g.138513253G>T	NCBI36
NG_007458.1:g.51807C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6099C>A MANE Select	ENSP00000498587.1:p.His2033Gln
ENST00000679595.1:c.*1139C>A	ENSP00000506241.1:n.*1139C>A
ENST00000679969.1:n.2695C>A
ENST00000680003.1:n.2431C>A
ENST00000680133.1:c.5985C>A	ENSP00000505319.1:p.His1995Gln
ENST00000680218.1:c.5979C>A	ENSP00000505339.1:p.His1993Gln
ENST00000680668.1:c.5985C>A	ENSP00000506336.1:p.His1995Gln
ENST00000680778.1:c.3696C>A	ENSP00000506033.1:p.His1232Gln
ENST00000680924.1:c.*3499C>A	ENSP00000506031.1:n.*3499C>A
ENST00000681135.1:c.*3708C>A	ENSP00000506636.1:n.*3708C>A
ENST00000681298.1:n.4204C>A
ENST00000681454.1:c.*5335C>A	ENSP00000505763.1:n.*5335C>A
ENST00000277541.6:c.6099C>A	ENSP00000277541.6:p.His2033Gln
NM_017617.3:c.6099C>A	NP_060087.3:p.His2033Gln
XM_011518717.1:c.5400C>A	XP_011517019.1:p.His1800Gln
NM_017617.5:c.6099C>A MANE Select	NP_060087.3:p.His2033Gln
XM_011518717.2:c.5376C>A	XP_011517019.2:p.His1792Gln