Canonical Allele Identifier: CA5340500

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 263902
• ClinVar RCV Id: RCV000456348 ; RCV000660168 ; RCV000770624 ; RCV002270151 ; RCV003323479 ; RCV004535221 ; RCV001722374
• dbSNP Id: rs61751539
• ExAC: 9:139399256 G / A
• gnomAD v2: 9-139399256-G-A
• gnomAD v3: 9-136504804-G-A
• gnomAD v4: 9-136504804-G-A
• MyVariant Identifiers: chr9:g.139399256G>A (hg19) ; chr9:g.136504804G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504804G>A , CM000671.2:g.136504804G>A	GRCh38
NC_000009.11:g.139399256G>A , CM000671.1:g.139399256G>A	GRCh37
NC_000009.10:g.138519077G>A	NCBI36
NG_007458.1:g.45983C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2694C>T
ENST00000651671.1:c.4887C>T MANE Select	ENSP00000498587.1:p.His1629=
ENST00000679595.1:c.4887C>T	ENSP00000506241.1:p.His1629=
ENST00000680133.1:c.4773C>T	ENSP00000505319.1:p.His1591=
ENST00000680218.1:c.4767C>T	ENSP00000505339.1:p.His1589=
ENST00000680668.1:c.4773C>T	ENSP00000506336.1:p.His1591=
ENST00000680778.1:c.2484C>T	ENSP00000506033.1:p.His828=
ENST00000680924.1:c.*2287C>T	ENSP00000506031.1:n.*2287C>T
ENST00000681135.1:c.*2496C>T	ENSP00000506636.1:n.*2496C>T
ENST00000681298.1:n.1700C>T
ENST00000681454.1:c.*4123C>T	ENSP00000505763.1:n.*4123C>T
ENST00000277541.6:c.4887C>T	ENSP00000277541.6:p.His1629=
ENST00000494783.1:n.42C>T
NM_017617.3:c.4887C>T	NP_060087.3:p.His1629=
XM_011518717.1:c.4188C>T	XP_011517019.1:p.His1396=
NM_017617.5:c.4887C>T MANE Select	NP_060087.3:p.His1629=
XM_011518717.2:c.4164C>T	XP_011517019.2:p.His1388=