Canonical Allele Identifier: CA467832386

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133318222
• MyVariant Identifiers: chr9:g.139391678C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497226C>T , CM000671.2:g.136497226C>T	GRCh38
NC_000009.11:g.139391678C>T , CM000671.1:g.139391678C>T	GRCh37
NC_000009.10:g.138511499C>T	NCBI36
NG_007458.1:g.53561G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6513G>A MANE Select	ENSP00000498587.1:p.Lys2171=
ENST00000679595.1:c.*1553G>A	ENSP00000506241.1:n.*1553G>A
ENST00000679969.1:n.3109G>A
ENST00000680003.1:n.2845G>A
ENST00000680133.1:c.6399G>A	ENSP00000505319.1:p.Lys2133=
ENST00000680218.1:c.6393G>A	ENSP00000505339.1:p.Lys2131=
ENST00000680668.1:c.6399G>A	ENSP00000506336.1:p.Lys2133=
ENST00000680778.1:c.4110G>A	ENSP00000506033.1:p.Lys1370=
ENST00000680924.1:c.*3913G>A	ENSP00000506031.1:n.*3913G>A
ENST00000681135.1:c.*4122G>A	ENSP00000506636.1:n.*4122G>A
ENST00000681298.1:n.4618G>A
ENST00000681454.1:c.*5749G>A	ENSP00000505763.1:n.*5749G>A
ENST00000277541.6:c.6513G>A	ENSP00000277541.6:p.Lys2171=
NM_017617.3:c.6513G>A	NP_060087.3:p.Lys2171=
XM_011518717.1:c.5814G>A	XP_011517019.1:p.Lys1938=
NM_017617.5:c.6513G>A MANE Select	NP_060087.3:p.Lys2171=
XM_011518717.2:c.5790G>A	XP_011517019.2:p.Lys1930=