Canonical Allele Identifier: CA467833046

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1164530395
• MyVariant Identifiers: chr9:g.139399496G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136505044G>A , CM000671.2:g.136505044G>A	GRCh38
NC_000009.11:g.139399496G>A , CM000671.1:g.139399496G>A	GRCh37
NC_000009.10:g.138519317G>A	NCBI36
NG_007458.1:g.45743C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2454C>T
ENST00000651671.1:c.4647C>T MANE Select	ENSP00000498587.1:p.Cys1549=
ENST00000679595.1:c.4647C>T	ENSP00000506241.1:p.Cys1549=
ENST00000680133.1:c.4533C>T	ENSP00000505319.1:p.Cys1511=
ENST00000680218.1:c.4527C>T	ENSP00000505339.1:p.Cys1509=
ENST00000680668.1:c.4533C>T	ENSP00000506336.1:p.Cys1511=
ENST00000680778.1:c.2244C>T	ENSP00000506033.1:p.Cys748=
ENST00000680924.1:c.*2047C>T	ENSP00000506031.1:n.*2047C>T
ENST00000681135.1:c.*2256C>T	ENSP00000506636.1:n.*2256C>T
ENST00000681298.1:n.1460C>T
ENST00000681454.1:c.*3883C>T	ENSP00000505763.1:n.*3883C>T
ENST00000277541.6:c.4647C>T	ENSP00000277541.6:p.Cys1549=
NM_017617.3:c.4647C>T	NP_060087.3:p.Cys1549=
XM_011518717.1:c.3948C>T	XP_011517019.1:p.Cys1316=
NM_017617.5:c.4647C>T MANE Select	NP_060087.3:p.Cys1549=
XM_011518717.2:c.3924C>T	XP_011517019.2:p.Cys1308=