Canonical Allele Identifier: CA467738496

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133322656
• MyVariant Identifiers: chr9:g.139393595T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136499143T>G , CM000671.2:g.136499143T>G	GRCh38
NC_000009.11:g.139393595T>G , CM000671.1:g.139393595T>G	GRCh37
NC_000009.10:g.138513416T>G	NCBI36
NG_007458.1:g.51644A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6051A>C MANE Select	ENSP00000498587.1:p.Ser2017=
ENST00000679595.1:c.*1091A>C	ENSP00000506241.1:n.*1091A>C
ENST00000679969.1:n.2532A>C
ENST00000680003.1:n.2383A>C
ENST00000680133.1:c.5937A>C	ENSP00000505319.1:p.Ser1979=
ENST00000680218.1:c.5931A>C	ENSP00000505339.1:p.Ser1977=
ENST00000680668.1:c.5937A>C	ENSP00000506336.1:p.Ser1979=
ENST00000680778.1:c.3648A>C	ENSP00000506033.1:p.Ser1216=
ENST00000680924.1:c.*3451A>C	ENSP00000506031.1:n.*3451A>C
ENST00000681135.1:c.*3660A>C	ENSP00000506636.1:n.*3660A>C
ENST00000681298.1:n.4156A>C
ENST00000681454.1:c.*5287A>C	ENSP00000505763.1:n.*5287A>C
ENST00000277541.6:c.6051A>C	ENSP00000277541.6:p.Ser2017=
NM_017617.3:c.6051A>C	NP_060087.3:p.Ser2017=
XM_011518717.1:c.5352A>C	XP_011517019.1:p.Ser1784=
NM_017617.5:c.6051A>C MANE Select	NP_060087.3:p.Ser2017=
XM_011518717.2:c.5328A>C	XP_011517019.2:p.Ser1776=