Canonical Allele Identifier: CA375644102

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1843049458
• MyVariant Identifiers: chr9:g.139399153T>A (hg19) ; chr9:g.136504701T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504701T>A , CM000671.2:g.136504701T>A	GRCh38
NC_000009.11:g.139399153T>A , CM000671.1:g.139399153T>A	GRCh37
NC_000009.10:g.138518974T>A	NCBI36
NG_007458.1:g.46086A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2797A>T
ENST00000651671.1:c.4990A>T MANE Select	ENSP00000498587.1:p.Arg1664Trp
ENST00000679595.1:c.4990A>T	ENSP00000506241.1:p.Arg1664Trp
ENST00000680133.1:c.4876A>T	ENSP00000505319.1:p.Arg1626Trp
ENST00000680218.1:c.4870A>T	ENSP00000505339.1:p.Arg1624Trp
ENST00000680668.1:c.4876A>T	ENSP00000506336.1:p.Arg1626Trp
ENST00000680778.1:c.2587A>T	ENSP00000506033.1:p.Arg863Trp
ENST00000680924.1:c.*2390A>T	ENSP00000506031.1:n.*2390A>T
ENST00000681135.1:c.*2599A>T	ENSP00000506636.1:n.*2599A>T
ENST00000681298.1:n.1803A>T
ENST00000681454.1:c.*4226A>T	ENSP00000505763.1:n.*4226A>T
ENST00000277541.6:c.4990A>T	ENSP00000277541.6:p.Arg1664Trp
ENST00000494783.1:n.145A>T
NM_017617.3:c.4990A>T	NP_060087.3:p.Arg1664Trp
XM_011518717.1:c.4291A>T	XP_011517019.1:p.Arg1431Trp
NM_017617.5:c.4990A>T MANE Select	NP_060087.3:p.Arg1664Trp
XM_011518717.2:c.4267A>T	XP_011517019.2:p.Arg1423Trp