Canonical Allele Identifier: CA10602396

Gene: NOTCH1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136506852G>T , CM000671.2:g.136506852G>T	GRCh38
NC_000009.11:g.139401304G>T , CM000671.1:g.139401304G>T	GRCh37
NC_000009.10:g.138521125G>T	NCBI36
NG_007458.1:g.43935C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.1572C>A
ENST00000651671.1:c.3765C>A MANE Select	ENSP00000498587.1:p.Cys1255Ter
ENST00000679595.1:c.3765C>A	ENSP00000506241.1:p.Cys1255Ter
ENST00000680133.1:c.3651C>A	ENSP00000505319.1:p.Cys1217Ter
ENST00000680218.1:c.3765C>A	ENSP00000505339.1:p.Cys1255Ter
ENST00000680668.1:c.3651C>A	ENSP00000506336.1:p.Cys1217Ter
ENST00000680778.1:c.1362C>A	ENSP00000506033.1:p.Cys454Ter
ENST00000680924.1:c.*1165C>A	ENSP00000506031.1:n.*1165C>A
ENST00000681135.1:c.*1374C>A	ENSP00000506636.1:n.*1374C>A
ENST00000681298.1:n.578C>A
ENST00000681454.1:c.*3001C>A	ENSP00000505763.1:n.*3001C>A
ENST00000277541.6:c.3765C>A	ENSP00000277541.6:p.Cys1255Ter
NM_017617.3:c.3765C>A	NP_060087.3:p.Cys1255Ter
XM_011518717.1:c.3066C>A	XP_011517019.1:p.Cys1022Ter
NM_017617.5:c.3765C>A MANE Select	NP_060087.3:p.Cys1255Ter
XM_011518717.2:c.3042C>A	XP_011517019.2:p.Cys1014Ter