Canonical Allele Identifier: CA375634231

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133322495
• MyVariant Identifiers: chr9:g.139393568G>T (hg19) ; chr9:g.136499116G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136499116G>T , CM000671.2:g.136499116G>T	GRCh38
NC_000009.11:g.139393568G>T , CM000671.1:g.139393568G>T	GRCh37
NC_000009.10:g.138513389G>T	NCBI36
NG_007458.1:g.51671C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6078C>A MANE Select	ENSP00000498587.1:p.Asp2026Glu
ENST00000679595.1:c.*1118C>A	ENSP00000506241.1:n.*1118C>A
ENST00000679969.1:n.2559C>A
ENST00000680003.1:n.2410C>A
ENST00000680133.1:c.5964C>A	ENSP00000505319.1:p.Asp1988Glu
ENST00000680218.1:c.5958C>A	ENSP00000505339.1:p.Asp1986Glu
ENST00000680668.1:c.5964C>A	ENSP00000506336.1:p.Asp1988Glu
ENST00000680778.1:c.3675C>A	ENSP00000506033.1:p.Asp1225Glu
ENST00000680924.1:c.*3478C>A	ENSP00000506031.1:n.*3478C>A
ENST00000681135.1:c.*3687C>A	ENSP00000506636.1:n.*3687C>A
ENST00000681298.1:n.4183C>A
ENST00000681454.1:c.*5314C>A	ENSP00000505763.1:n.*5314C>A
ENST00000277541.6:c.6078C>A	ENSP00000277541.6:p.Asp2026Glu
NM_017617.3:c.6078C>A	NP_060087.3:p.Asp2026Glu
XM_011518717.1:c.5379C>A	XP_011517019.1:p.Asp1793Glu
NM_017617.5:c.6078C>A MANE Select	NP_060087.3:p.Asp2026Glu
XM_011518717.2:c.5355C>A	XP_011517019.2:p.Asp1785Glu