Canonical Allele Identifier: CA467741900

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 513409
• ClinVar RCV Id: RCV000607150 ; RCV002315927 ; RCV002270818 ; RCV002270817 ; RCV004530803
• dbSNP Id: rs1251609154
• gnomAD v3: 9-136504675-G-A
• gnomAD v4: 9-136504675-G-A
• MyVariant Identifiers: chr9:g.139399127G>A (hg19) ; chr9:g.136504675G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504675G>A , CM000671.2:g.136504675G>A	GRCh38
NC_000009.11:g.139399127G>A , CM000671.1:g.139399127G>A	GRCh37
NC_000009.10:g.138518948G>A	NCBI36
NG_007458.1:g.46112C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2823C>T
ENST00000651671.1:c.5016C>T MANE Select	ENSP00000498587.1:p.Arg1672=
ENST00000679595.1:c.5016C>T	ENSP00000506241.1:p.Arg1672=
ENST00000680133.1:c.4902C>T	ENSP00000505319.1:p.Arg1634=
ENST00000680218.1:c.4896C>T	ENSP00000505339.1:p.Arg1632=
ENST00000680668.1:c.4902C>T	ENSP00000506336.1:p.Arg1634=
ENST00000680778.1:c.2613C>T	ENSP00000506033.1:p.Arg871=
ENST00000680924.1:c.*2416C>T	ENSP00000506031.1:n.*2416C>T
ENST00000681135.1:c.*2625C>T	ENSP00000506636.1:n.*2625C>T
ENST00000681298.1:n.1829C>T
ENST00000681454.1:c.*4252C>T	ENSP00000505763.1:n.*4252C>T
ENST00000277541.6:c.5016C>T	ENSP00000277541.6:p.Arg1672=
ENST00000494783.1:n.171C>T
NM_017617.3:c.5016C>T	NP_060087.3:p.Arg1672=
XM_011518717.1:c.4317C>T	XP_011517019.1:p.Arg1439=
NM_017617.5:c.5016C>T MANE Select	NP_060087.3:p.Arg1672=
XM_011518717.2:c.4293C>T	XP_011517019.2:p.Arg1431=