Canonical Allele Identifier: CA375631253

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1346987070
• gnomAD v4: 9-136497177-C-G
• MyVariant Identifiers: chr9:g.139391629C>G (hg19) ; chr9:g.136497177C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497177C>G , CM000671.2:g.136497177C>G	GRCh38
NC_000009.11:g.139391629C>G , CM000671.1:g.139391629C>G	GRCh37
NC_000009.10:g.138511450C>G	NCBI36
NG_007458.1:g.53610G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6562G>C MANE Select	ENSP00000498587.1:p.Gly2188Arg
ENST00000679595.1:c.*1602G>C	ENSP00000506241.1:n.*1602G>C
ENST00000679969.1:n.3158G>C
ENST00000680003.1:n.2894G>C
ENST00000680133.1:c.6448G>C	ENSP00000505319.1:p.Gly2150Arg
ENST00000680218.1:c.6442G>C	ENSP00000505339.1:p.Gly2148Arg
ENST00000680668.1:c.6448G>C	ENSP00000506336.1:p.Gly2150Arg
ENST00000680778.1:c.4159G>C	ENSP00000506033.1:p.Gly1387Arg
ENST00000680924.1:c.*3962G>C	ENSP00000506031.1:n.*3962G>C
ENST00000681135.1:c.*4171G>C	ENSP00000506636.1:n.*4171G>C
ENST00000681298.1:n.4667G>C
ENST00000681454.1:c.*5798G>C	ENSP00000505763.1:n.*5798G>C
ENST00000277541.6:c.6562G>C	ENSP00000277541.6:p.Gly2188Arg
NM_017617.3:c.6562G>C	NP_060087.3:p.Gly2188Arg
XM_011518717.1:c.5863G>C	XP_011517019.1:p.Gly1955Arg
NM_017617.5:c.6562G>C MANE Select	NP_060087.3:p.Gly2188Arg
XM_011518717.2:c.5839G>C	XP_011517019.2:p.Gly1947Arg