Canonical Allele Identifier: CA375644488

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133336199
• MyVariant Identifiers: chr9:g.139399251A>G (hg19) ; chr9:g.136504799A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504799A>G , CM000671.2:g.136504799A>G	GRCh38
NC_000009.11:g.139399251A>G , CM000671.1:g.139399251A>G	GRCh37
NC_000009.10:g.138519072A>G	NCBI36
NG_007458.1:g.45988T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2699T>C
ENST00000651671.1:c.4892T>C MANE Select	ENSP00000498587.1:p.Ile1631Thr
ENST00000679595.1:c.4892T>C	ENSP00000506241.1:p.Ile1631Thr
ENST00000680133.1:c.4778T>C	ENSP00000505319.1:p.Ile1593Thr
ENST00000680218.1:c.4772T>C	ENSP00000505339.1:p.Ile1591Thr
ENST00000680668.1:c.4778T>C	ENSP00000506336.1:p.Ile1593Thr
ENST00000680778.1:c.2489T>C	ENSP00000506033.1:p.Ile830Thr
ENST00000680924.1:c.*2292T>C	ENSP00000506031.1:n.*2292T>C
ENST00000681135.1:c.*2501T>C	ENSP00000506636.1:n.*2501T>C
ENST00000681298.1:n.1705T>C
ENST00000681454.1:c.*4128T>C	ENSP00000505763.1:n.*4128T>C
ENST00000277541.6:c.4892T>C	ENSP00000277541.6:p.Ile1631Thr
ENST00000494783.1:n.47T>C
NM_017617.3:c.4892T>C	NP_060087.3:p.Ile1631Thr
XM_011518717.1:c.4193T>C	XP_011517019.1:p.Ile1398Thr
NM_017617.5:c.4892T>C MANE Select	NP_060087.3:p.Ile1631Thr
XM_011518717.2:c.4169T>C	XP_011517019.2:p.Ile1390Thr