Canonical Allele Identifier: CA5339885

Gene: NOTCH1

Linked Data

• dbSNP Id: rs752748135
• ExAC: 9:139391686 C / T
• gnomAD v2: 9-139391686-C-T
• gnomAD v4: 9-136497234-C-T
• MyVariant Identifiers: chr9:g.139391686C>T (hg19) ; chr9:g.136497234C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497234C>T , CM000671.2:g.136497234C>T	GRCh38
NC_000009.11:g.139391686C>T , CM000671.1:g.139391686C>T	GRCh37
NC_000009.10:g.138511507C>T	NCBI36
NG_007458.1:g.53553G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6505G>A MANE Select	ENSP00000498587.1:p.Gly2169Arg
ENST00000679595.1:c.*1545G>A	ENSP00000506241.1:n.*1545G>A
ENST00000679969.1:n.3101G>A
ENST00000680003.1:n.2837G>A
ENST00000680133.1:c.6391G>A	ENSP00000505319.1:p.Gly2131Arg
ENST00000680218.1:c.6385G>A	ENSP00000505339.1:p.Gly2129Arg
ENST00000680668.1:c.6391G>A	ENSP00000506336.1:p.Gly2131Arg
ENST00000680778.1:c.4102G>A	ENSP00000506033.1:p.Gly1368Arg
ENST00000680924.1:c.*3905G>A	ENSP00000506031.1:n.*3905G>A
ENST00000681135.1:c.*4114G>A	ENSP00000506636.1:n.*4114G>A
ENST00000681298.1:n.4610G>A
ENST00000681454.1:c.*5741G>A	ENSP00000505763.1:n.*5741G>A
ENST00000277541.6:c.6505G>A	ENSP00000277541.6:p.Gly2169Arg
NM_017617.3:c.6505G>A	NP_060087.3:p.Gly2169Arg
XM_011518717.1:c.5806G>A	XP_011517019.1:p.Gly1936Arg
NM_017617.5:c.6505G>A MANE Select	NP_060087.3:p.Gly2169Arg
XM_011518717.2:c.5782G>A	XP_011517019.2:p.Gly1928Arg