Canonical Allele Identifier: CA375633963

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 523603
• ClinVar RCV Id: RCV000662257
• dbSNP Id: rs1554826688
• MyVariant Identifiers: chr9:g.139393403G>A (hg19) ; chr9:g.136498951G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136498951G>A , CM000671.2:g.136498951G>A	GRCh38
NC_000009.11:g.139393403G>A , CM000671.1:g.139393403G>A	GRCh37
NC_000009.10:g.138513224G>A	NCBI36
NG_007458.1:g.51836C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6128C>T MANE Select	ENSP00000498587.1:p.Ala2043Val
ENST00000679595.1:c.*1168C>T	ENSP00000506241.1:n.*1168C>T
ENST00000679969.1:n.2724C>T
ENST00000680003.1:n.2460C>T
ENST00000680133.1:c.6014C>T	ENSP00000505319.1:p.Ala2005Val
ENST00000680218.1:c.6008C>T	ENSP00000505339.1:p.Ala2003Val
ENST00000680668.1:c.6014C>T	ENSP00000506336.1:p.Ala2005Val
ENST00000680778.1:c.3725C>T	ENSP00000506033.1:p.Ala1242Val
ENST00000680924.1:c.*3528C>T	ENSP00000506031.1:n.*3528C>T
ENST00000681135.1:c.*3737C>T	ENSP00000506636.1:n.*3737C>T
ENST00000681298.1:n.4233C>T
ENST00000681454.1:c.*5364C>T	ENSP00000505763.1:n.*5364C>T
ENST00000277541.6:c.6128C>T	ENSP00000277541.6:p.Ala2043Val
NM_017617.3:c.6128C>T	NP_060087.3:p.Ala2043Val
XM_011518717.1:c.5429C>T	XP_011517019.1:p.Ala1810Val
NM_017617.5:c.6128C>T MANE Select	NP_060087.3:p.Ala2043Val
XM_011518717.2:c.5405C>T	XP_011517019.2:p.Ala1802Val