Canonical Allele Identifier: CA375631717

Gene: NOTCH1

Linked Data

• dbSNP Id: rs760564367
• gnomAD v4: 9-136497299-C-T
• MyVariant Identifiers: chr9:g.139391751C>T (hg19) ; chr9:g.136497299C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497299C>T , CM000671.2:g.136497299C>T	GRCh38
NC_000009.11:g.139391751C>T , CM000671.1:g.139391751C>T	GRCh37
NC_000009.10:g.138511572C>T	NCBI36
NG_007458.1:g.53488G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6440G>A MANE Select	ENSP00000498587.1:p.Gly2147Asp
ENST00000679595.1:c.*1480G>A	ENSP00000506241.1:n.*1480G>A
ENST00000679969.1:n.3036G>A
ENST00000680003.1:n.2772G>A
ENST00000680133.1:c.6326G>A	ENSP00000505319.1:p.Gly2109Asp
ENST00000680218.1:c.6320G>A	ENSP00000505339.1:p.Gly2107Asp
ENST00000680668.1:c.6326G>A	ENSP00000506336.1:p.Gly2109Asp
ENST00000680778.1:c.4037G>A	ENSP00000506033.1:p.Gly1346Asp
ENST00000680924.1:c.*3840G>A	ENSP00000506031.1:n.*3840G>A
ENST00000681135.1:c.*4049G>A	ENSP00000506636.1:n.*4049G>A
ENST00000681298.1:n.4545G>A
ENST00000681454.1:c.*5676G>A	ENSP00000505763.1:n.*5676G>A
ENST00000277541.6:c.6440G>A	ENSP00000277541.6:p.Gly2147Asp
NM_017617.3:c.6440G>A	NP_060087.3:p.Gly2147Asp
XM_011518717.1:c.5741G>A	XP_011517019.1:p.Gly1914Asp
NM_017617.5:c.6440G>A MANE Select	NP_060087.3:p.Gly2147Asp
XM_011518717.2:c.5717G>A	XP_011517019.2:p.Gly1906Asp