Canonical Allele Identifier: CA375631660

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139391736C>T (hg19) ; chr9:g.136497284C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497284C>T , CM000671.2:g.136497284C>T	GRCh38
NC_000009.11:g.139391736C>T , CM000671.1:g.139391736C>T	GRCh37
NC_000009.10:g.138511557C>T	NCBI36
NG_007458.1:g.53503G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6455G>A MANE Select	ENSP00000498587.1:p.Gly2152Asp
ENST00000679595.1:c.*1495G>A	ENSP00000506241.1:n.*1495G>A
ENST00000679969.1:n.3051G>A
ENST00000680003.1:n.2787G>A
ENST00000680133.1:c.6341G>A	ENSP00000505319.1:p.Gly2114Asp
ENST00000680218.1:c.6335G>A	ENSP00000505339.1:p.Gly2112Asp
ENST00000680668.1:c.6341G>A	ENSP00000506336.1:p.Gly2114Asp
ENST00000680778.1:c.4052G>A	ENSP00000506033.1:p.Gly1351Asp
ENST00000680924.1:c.*3855G>A	ENSP00000506031.1:n.*3855G>A
ENST00000681135.1:c.*4064G>A	ENSP00000506636.1:n.*4064G>A
ENST00000681298.1:n.4560G>A
ENST00000681454.1:c.*5691G>A	ENSP00000505763.1:n.*5691G>A
ENST00000277541.6:c.6455G>A	ENSP00000277541.6:p.Gly2152Asp
NM_017617.3:c.6455G>A	NP_060087.3:p.Gly2152Asp
XM_011518717.1:c.5756G>A	XP_011517019.1:p.Gly1919Asp
NM_017617.5:c.6455G>A MANE Select	NP_060087.3:p.Gly2152Asp
XM_011518717.2:c.5732G>A	XP_011517019.2:p.Gly1911Asp