Canonical Allele Identifier: CA467717016

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133354952
• MyVariant Identifiers: chr9:g.139405704C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136511252C>A , CM000671.2:g.136511252C>A	GRCh38
NC_000009.11:g.139405704C>A , CM000671.1:g.139405704C>A	GRCh37
NC_000009.10:g.138525525C>A	NCBI36
NG_007458.1:g.39535G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000645828.1:n.294G>T
ENST00000646957.2:n.110G>T
ENST00000651671.1:c.2487G>T MANE Select	ENSP00000498587.1:p.Val829=
ENST00000679595.1:c.2487G>T	ENSP00000506241.1:p.Val829=
ENST00000680133.1:c.2373G>T	ENSP00000505319.1:p.Val791=
ENST00000680218.1:c.2487G>T	ENSP00000505339.1:p.Val829=
ENST00000680668.1:c.2373G>T	ENSP00000506336.1:p.Val791=
ENST00000680778.1:c.84G>T	ENSP00000506033.1:p.Val28=
ENST00000680924.1:c.2487G>T	ENSP00000506031.1:p.Val829=
ENST00000681135.1:c.*96G>T	ENSP00000506636.1:n.*96G>T
ENST00000681454.1:c.*1723G>T	ENSP00000505763.1:n.*1723G>T
ENST00000277541.6:c.2487G>T	ENSP00000277541.6:p.Val829=
NM_017617.3:c.2487G>T	NP_060087.3:p.Val829=
XM_011518717.1:c.1788G>T	XP_011517019.1:p.Val596=
NM_017617.5:c.2487G>T MANE Select	NP_060087.3:p.Val829=
XM_011518717.2:c.1764G>T	XP_011517019.2:p.Val588=