Canonical Allele Identifier: CA375631850

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133318835
• MyVariant Identifiers: chr9:g.139391800C>A (hg19) ; chr9:g.136497348C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497348C>A , CM000671.2:g.136497348C>A	GRCh38
NC_000009.11:g.139391800C>A , CM000671.1:g.139391800C>A	GRCh37
NC_000009.10:g.138511621C>A	NCBI36
NG_007458.1:g.53439G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6391G>T MANE Select	ENSP00000498587.1:p.Gly2131Cys
ENST00000679595.1:c.*1431G>T	ENSP00000506241.1:n.*1431G>T
ENST00000679969.1:n.2987G>T
ENST00000680003.1:n.2723G>T
ENST00000680133.1:c.6277G>T	ENSP00000505319.1:p.Gly2093Cys
ENST00000680218.1:c.6271G>T	ENSP00000505339.1:p.Gly2091Cys
ENST00000680668.1:c.6277G>T	ENSP00000506336.1:p.Gly2093Cys
ENST00000680778.1:c.3988G>T	ENSP00000506033.1:p.Gly1330Cys
ENST00000680924.1:c.*3791G>T	ENSP00000506031.1:n.*3791G>T
ENST00000681135.1:c.*4000G>T	ENSP00000506636.1:n.*4000G>T
ENST00000681298.1:n.4496G>T
ENST00000681454.1:c.*5627G>T	ENSP00000505763.1:n.*5627G>T
ENST00000277541.6:c.6391G>T	ENSP00000277541.6:p.Gly2131Cys
NM_017617.3:c.6391G>T	NP_060087.3:p.Gly2131Cys
XM_011518717.1:c.5692G>T	XP_011517019.1:p.Gly1898Cys
NM_017617.5:c.6391G>T MANE Select	NP_060087.3:p.Gly2131Cys
XM_011518717.2:c.5668G>T	XP_011517019.2:p.Gly1890Cys