Canonical Allele Identifier: CA467832719

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133336563
• MyVariant Identifiers: chr9:g.139399319A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504867A>C , CM000671.2:g.136504867A>C	GRCh38
NC_000009.11:g.139399319A>C , CM000671.1:g.139399319A>C	GRCh37
NC_000009.10:g.138519140A>C	NCBI36
NG_007458.1:g.45920T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2631T>G
ENST00000651671.1:c.4824T>G MANE Select	ENSP00000498587.1:p.Arg1608=
ENST00000679595.1:c.4824T>G	ENSP00000506241.1:p.Arg1608=
ENST00000680133.1:c.4710T>G	ENSP00000505319.1:p.Arg1570=
ENST00000680218.1:c.4704T>G	ENSP00000505339.1:p.Arg1568=
ENST00000680668.1:c.4710T>G	ENSP00000506336.1:p.Arg1570=
ENST00000680778.1:c.2421T>G	ENSP00000506033.1:p.Arg807=
ENST00000680924.1:c.*2224T>G	ENSP00000506031.1:n.*2224T>G
ENST00000681135.1:c.*2433T>G	ENSP00000506636.1:n.*2433T>G
ENST00000681298.1:n.1637T>G
ENST00000681454.1:c.*4060T>G	ENSP00000505763.1:n.*4060T>G
ENST00000277541.6:c.4824T>G	ENSP00000277541.6:p.Arg1608=
NM_017617.3:c.4824T>G	NP_060087.3:p.Arg1608=
XM_011518717.1:c.4125T>G	XP_011517019.1:p.Arg1375=
NM_017617.5:c.4824T>G MANE Select	NP_060087.3:p.Arg1608=
XM_011518717.2:c.4101T>G	XP_011517019.2:p.Arg1367=