Canonical Allele Identifier: CA375644709

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133336438
• MyVariant Identifiers: chr9:g.139399297T>A (hg19) ; chr9:g.136504845T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504845T>A , CM000671.2:g.136504845T>A	GRCh38
NC_000009.11:g.139399297T>A , CM000671.1:g.139399297T>A	GRCh37
NC_000009.10:g.138519118T>A	NCBI36
NG_007458.1:g.45942A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2653A>T
ENST00000651671.1:c.4846A>T MANE Select	ENSP00000498587.1:p.Ile1616Phe
ENST00000679595.1:c.4846A>T	ENSP00000506241.1:p.Ile1616Phe
ENST00000680133.1:c.4732A>T	ENSP00000505319.1:p.Ile1578Phe
ENST00000680218.1:c.4726A>T	ENSP00000505339.1:p.Ile1576Phe
ENST00000680668.1:c.4732A>T	ENSP00000506336.1:p.Ile1578Phe
ENST00000680778.1:c.2443A>T	ENSP00000506033.1:p.Ile815Phe
ENST00000680924.1:c.*2246A>T	ENSP00000506031.1:n.*2246A>T
ENST00000681135.1:c.*2455A>T	ENSP00000506636.1:n.*2455A>T
ENST00000681298.1:n.1659A>T
ENST00000681454.1:c.*4082A>T	ENSP00000505763.1:n.*4082A>T
ENST00000277541.6:c.4846A>T	ENSP00000277541.6:p.Ile1616Phe
ENST00000494783.1:n.1A>T
NM_017617.3:c.4846A>T	NP_060087.3:p.Ile1616Phe
XM_011518717.1:c.4147A>T	XP_011517019.1:p.Ile1383Phe
NM_017617.5:c.4846A>T MANE Select	NP_060087.3:p.Ile1616Phe
XM_011518717.2:c.4123A>T	XP_011517019.2:p.Ile1375Phe