Canonical Allele Identifier: CA375634113

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133321907
• MyVariant Identifiers: chr9:g.139393439G>A (hg19) ; chr9:g.136498987G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136498987G>A , CM000671.2:g.136498987G>A	GRCh38
NC_000009.11:g.139393439G>A , CM000671.1:g.139393439G>A	GRCh37
NC_000009.10:g.138513260G>A	NCBI36
NG_007458.1:g.51800C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6092C>T MANE Select	ENSP00000498587.1:p.Ala2031Val
ENST00000679595.1:c.*1132C>T	ENSP00000506241.1:n.*1132C>T
ENST00000679969.1:n.2688C>T
ENST00000680003.1:n.2424C>T
ENST00000680133.1:c.5978C>T	ENSP00000505319.1:p.Ala1993Val
ENST00000680218.1:c.5972C>T	ENSP00000505339.1:p.Ala1991Val
ENST00000680668.1:c.5978C>T	ENSP00000506336.1:p.Ala1993Val
ENST00000680778.1:c.3689C>T	ENSP00000506033.1:p.Ala1230Val
ENST00000680924.1:c.*3492C>T	ENSP00000506031.1:n.*3492C>T
ENST00000681135.1:c.*3701C>T	ENSP00000506636.1:n.*3701C>T
ENST00000681298.1:n.4197C>T
ENST00000681454.1:c.*5328C>T	ENSP00000505763.1:n.*5328C>T
ENST00000277541.6:c.6092C>T	ENSP00000277541.6:p.Ala2031Val
NM_017617.3:c.6092C>T	NP_060087.3:p.Ala2031Val
XM_011518717.1:c.5393C>T	XP_011517019.1:p.Ala1798Val
NM_017617.5:c.6092C>T MANE Select	NP_060087.3:p.Ala2031Val
XM_011518717.2:c.5369C>T	XP_011517019.2:p.Ala1790Val