Canonical Allele Identifier: CA375644213

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 2566653
• ClinVar RCV Id: RCV003278135
• dbSNP Id: rs1322678641
• MyVariant Identifiers: chr9:g.139399180C>G (hg19) ; chr9:g.136504728C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504728C>G , CM000671.2:g.136504728C>G	GRCh38
NC_000009.11:g.139399180C>G , CM000671.1:g.139399180C>G	GRCh37
NC_000009.10:g.138519001C>G	NCBI36
NG_007458.1:g.46059G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2770G>C
ENST00000651671.1:c.4963G>C MANE Select	ENSP00000498587.1:p.Gly1655Arg
ENST00000679595.1:c.4963G>C	ENSP00000506241.1:p.Gly1655Arg
ENST00000680133.1:c.4849G>C	ENSP00000505319.1:p.Gly1617Arg
ENST00000680218.1:c.4843G>C	ENSP00000505339.1:p.Gly1615Arg
ENST00000680668.1:c.4849G>C	ENSP00000506336.1:p.Gly1617Arg
ENST00000680778.1:c.2560G>C	ENSP00000506033.1:p.Gly854Arg
ENST00000680924.1:c.*2363G>C	ENSP00000506031.1:n.*2363G>C
ENST00000681135.1:c.*2572G>C	ENSP00000506636.1:n.*2572G>C
ENST00000681298.1:n.1776G>C
ENST00000681454.1:c.*4199G>C	ENSP00000505763.1:n.*4199G>C
ENST00000277541.6:c.4963G>C	ENSP00000277541.6:p.Gly1655Arg
ENST00000494783.1:n.118G>C
NM_017617.3:c.4963G>C	NP_060087.3:p.Gly1655Arg
XM_011518717.1:c.4264G>C	XP_011517019.1:p.Gly1422Arg
NM_017617.5:c.4963G>C MANE Select	NP_060087.3:p.Gly1655Arg
XM_011518717.2:c.4240G>C	XP_011517019.2:p.Gly1414Arg