Canonical Allele Identifier: CA201643745

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 1414278
• ClinVar RCV Id: RCV001945250
• dbSNP Id: rs998433493
• gnomAD v2: 9-139399162-G-A
• gnomAD v3: 9-136504710-G-A
• gnomAD v4: 9-136504710-G-A
• MyVariant Identifiers: chr9:g.139399162G>A (hg19) ; chr9:g.136504710G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504710G>A , CM000671.2:g.136504710G>A	GRCh38
NC_000009.11:g.139399162G>A , CM000671.1:g.139399162G>A	GRCh37
NC_000009.10:g.138518983G>A	NCBI36
NG_007458.1:g.46077C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2788C>T
ENST00000651671.1:c.4981C>T MANE Select	ENSP00000498587.1:p.Arg1661Trp
ENST00000679595.1:c.4981C>T	ENSP00000506241.1:p.Arg1661Trp
ENST00000680133.1:c.4867C>T	ENSP00000505319.1:p.Arg1623Trp
ENST00000680218.1:c.4861C>T	ENSP00000505339.1:p.Arg1621Trp
ENST00000680668.1:c.4867C>T	ENSP00000506336.1:p.Arg1623Trp
ENST00000680778.1:c.2578C>T	ENSP00000506033.1:p.Arg860Trp
ENST00000680924.1:c.*2381C>T	ENSP00000506031.1:n.*2381C>T
ENST00000681135.1:c.*2590C>T	ENSP00000506636.1:n.*2590C>T
ENST00000681298.1:n.1794C>T
ENST00000681454.1:c.*4217C>T	ENSP00000505763.1:n.*4217C>T
ENST00000277541.6:c.4981C>T	ENSP00000277541.6:p.Arg1661Trp
ENST00000494783.1:n.136C>T
NM_017617.3:c.4981C>T	NP_060087.3:p.Arg1661Trp
XM_011518717.1:c.4282C>T	XP_011517019.1:p.Arg1428Trp
NM_017617.5:c.4981C>T MANE Select	NP_060087.3:p.Arg1661Trp
XM_011518717.2:c.4258C>T	XP_011517019.2:p.Arg1420Trp