Canonical Allele Identifier: CA467717003

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139405695C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136511243C>G , CM000671.2:g.136511243C>G	GRCh38
NC_000009.11:g.139405695C>G , CM000671.1:g.139405695C>G	GRCh37
NC_000009.10:g.138525516C>G	NCBI36
NG_007458.1:g.39544G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000645828.1:n.303G>C
ENST00000646957.2:n.119G>C
ENST00000651671.1:c.2496G>C MANE Select	ENSP00000498587.1:p.Pro832=
ENST00000679595.1:c.2496G>C	ENSP00000506241.1:p.Pro832=
ENST00000680133.1:c.2382G>C	ENSP00000505319.1:p.Pro794=
ENST00000680218.1:c.2496G>C	ENSP00000505339.1:p.Pro832=
ENST00000680668.1:c.2382G>C	ENSP00000506336.1:p.Pro794=
ENST00000680778.1:c.93G>C	ENSP00000506033.1:p.Pro31=
ENST00000680924.1:c.2496G>C	ENSP00000506031.1:p.Pro832=
ENST00000681135.1:c.*105G>C	ENSP00000506636.1:n.*105G>C
ENST00000681454.1:c.*1732G>C	ENSP00000505763.1:n.*1732G>C
ENST00000277541.6:c.2496G>C	ENSP00000277541.6:p.Pro832=
NM_017617.3:c.2496G>C	NP_060087.3:p.Pro832=
XM_011518717.1:c.1797G>C	XP_011517019.1:p.Pro599=
NM_017617.5:c.2496G>C MANE Select	NP_060087.3:p.Pro832=
XM_011518717.2:c.1773G>C	XP_011517019.2:p.Pro591=