Canonical Allele Identifier: CA375631272

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139391634C>T (hg19) ; chr9:g.136497182C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497182C>T , CM000671.2:g.136497182C>T	GRCh38
NC_000009.11:g.139391634C>T , CM000671.1:g.139391634C>T	GRCh37
NC_000009.10:g.138511455C>T	NCBI36
NG_007458.1:g.53605G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6557G>A MANE Select	ENSP00000498587.1:p.Gly2186Asp
ENST00000679595.1:c.*1597G>A	ENSP00000506241.1:n.*1597G>A
ENST00000679969.1:n.3153G>A
ENST00000680003.1:n.2889G>A
ENST00000680133.1:c.6443G>A	ENSP00000505319.1:p.Gly2148Asp
ENST00000680218.1:c.6437G>A	ENSP00000505339.1:p.Gly2146Asp
ENST00000680668.1:c.6443G>A	ENSP00000506336.1:p.Gly2148Asp
ENST00000680778.1:c.4154G>A	ENSP00000506033.1:p.Gly1385Asp
ENST00000680924.1:c.*3957G>A	ENSP00000506031.1:n.*3957G>A
ENST00000681135.1:c.*4166G>A	ENSP00000506636.1:n.*4166G>A
ENST00000681298.1:n.4662G>A
ENST00000681454.1:c.*5793G>A	ENSP00000505763.1:n.*5793G>A
ENST00000277541.6:c.6557G>A	ENSP00000277541.6:p.Gly2186Asp
NM_017617.3:c.6557G>A	NP_060087.3:p.Gly2186Asp
XM_011518717.1:c.5858G>A	XP_011517019.1:p.Gly1953Asp
NM_017617.5:c.6557G>A MANE Select	NP_060087.3:p.Gly2186Asp
XM_011518717.2:c.5834G>A	XP_011517019.2:p.Gly1945Asp