Canonical Allele Identifier: CA375551075

Gene: NOTCH1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136508002G>A , CM000671.2:g.136508002G>A	GRCh38
NC_000009.11:g.139402454G>A , CM000671.1:g.139402454G>A	GRCh37
NC_000009.10:g.138522275G>A	NCBI36
NG_007458.1:g.42785C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.1270C>T
ENST00000651671.1:c.3463C>T MANE Select	ENSP00000498587.1:p.Gln1155Ter
ENST00000679595.1:c.3463C>T	ENSP00000506241.1:p.Gln1155Ter
ENST00000680133.1:c.3349C>T	ENSP00000505319.1:p.Gln1117Ter
ENST00000680218.1:c.3463C>T	ENSP00000505339.1:p.Gln1155Ter
ENST00000680668.1:c.3349C>T	ENSP00000506336.1:p.Gln1117Ter
ENST00000680778.1:c.1060C>T	ENSP00000506033.1:p.Gln354Ter
ENST00000680924.1:c.*863C>T	ENSP00000506031.1:n.*863C>T
ENST00000681135.1:c.*1072C>T	ENSP00000506636.1:n.*1072C>T
ENST00000681298.1:n.276C>T
ENST00000681454.1:c.*2699C>T	ENSP00000505763.1:n.*2699C>T
ENST00000277541.6:c.3463C>T	ENSP00000277541.6:p.Gln1155Ter
NM_017617.3:c.3463C>T	NP_060087.3:p.Gln1155Ter
XM_011518717.1:c.2764C>T	XP_011517019.1:p.Gln922Ter
NM_017617.5:c.3463C>T MANE Select	NP_060087.3:p.Gln1155Ter
XM_011518717.2:c.2740C>T	XP_011517019.2:p.Gln914Ter