Canonical Allele Identifier: CA467738005

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133321616
• MyVariant Identifiers: chr9:g.139393387C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136498935C>A , CM000671.2:g.136498935C>A	GRCh38
NC_000009.11:g.139393387C>A , CM000671.1:g.139393387C>A	GRCh37
NC_000009.10:g.138513208C>A	NCBI36
NG_007458.1:g.51852G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6144G>T MANE Select	ENSP00000498587.1:p.Leu2048=
ENST00000679595.1:c.*1184G>T	ENSP00000506241.1:n.*1184G>T
ENST00000679969.1:n.2740G>T
ENST00000680003.1:n.2476G>T
ENST00000680133.1:c.6030G>T	ENSP00000505319.1:p.Leu2010=
ENST00000680218.1:c.6024G>T	ENSP00000505339.1:p.Leu2008=
ENST00000680668.1:c.6030G>T	ENSP00000506336.1:p.Leu2010=
ENST00000680778.1:c.3741G>T	ENSP00000506033.1:p.Leu1247=
ENST00000680924.1:c.*3544G>T	ENSP00000506031.1:n.*3544G>T
ENST00000681135.1:c.*3753G>T	ENSP00000506636.1:n.*3753G>T
ENST00000681298.1:n.4249G>T
ENST00000681454.1:c.*5380G>T	ENSP00000505763.1:n.*5380G>T
ENST00000277541.6:c.6144G>T	ENSP00000277541.6:p.Leu2048=
NM_017617.3:c.6144G>T	NP_060087.3:p.Leu2048=
XM_011518717.1:c.5445G>T	XP_011517019.1:p.Leu1815=
NM_017617.5:c.6144G>T MANE Select	NP_060087.3:p.Leu2048=
XM_011518717.2:c.5421G>T	XP_011517019.2:p.Leu1807=