Canonical Allele Identifier: CA375634106

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133321892
• COSMIC: COSM5902911 ; COSM5902912
• MyVariant Identifiers: chr9:g.139393436A>G (hg19) ; chr9:g.136498984A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136498984A>G , CM000671.2:g.136498984A>G	GRCh38
NC_000009.11:g.139393436A>G , CM000671.1:g.139393436A>G	GRCh37
NC_000009.10:g.138513257A>G	NCBI36
NG_007458.1:g.51803T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6095T>C MANE Select	ENSP00000498587.1:p.Leu2032Pro
ENST00000679595.1:c.*1135T>C	ENSP00000506241.1:n.*1135T>C
ENST00000679969.1:n.2691T>C
ENST00000680003.1:n.2427T>C
ENST00000680133.1:c.5981T>C	ENSP00000505319.1:p.Leu1994Pro
ENST00000680218.1:c.5975T>C	ENSP00000505339.1:p.Leu1992Pro
ENST00000680668.1:c.5981T>C	ENSP00000506336.1:p.Leu1994Pro
ENST00000680778.1:c.3692T>C	ENSP00000506033.1:p.Leu1231Pro
ENST00000680924.1:c.*3495T>C	ENSP00000506031.1:n.*3495T>C
ENST00000681135.1:c.*3704T>C	ENSP00000506636.1:n.*3704T>C
ENST00000681298.1:n.4200T>C
ENST00000681454.1:c.*5331T>C	ENSP00000505763.1:n.*5331T>C
ENST00000277541.6:c.6095T>C	ENSP00000277541.6:p.Leu2032Pro
NM_017617.3:c.6095T>C	NP_060087.3:p.Leu2032Pro
XM_011518717.1:c.5396T>C	XP_011517019.1:p.Leu1799Pro
NM_017617.5:c.6095T>C MANE Select	NP_060087.3:p.Leu2032Pro
XM_011518717.2:c.5372T>C	XP_011517019.2:p.Leu1791Pro