Canonical Allele Identifier: CA375631288

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139391637T>G (hg19) ; chr9:g.136497185T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497185T>G , CM000671.2:g.136497185T>G	GRCh38
NC_000009.11:g.139391637T>G , CM000671.1:g.139391637T>G	GRCh37
NC_000009.10:g.138511458T>G	NCBI36
NG_007458.1:g.53602A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6554A>C MANE Select	ENSP00000498587.1:p.Asp2185Ala
ENST00000679595.1:c.*1594A>C	ENSP00000506241.1:n.*1594A>C
ENST00000679969.1:n.3150A>C
ENST00000680003.1:n.2886A>C
ENST00000680133.1:c.6440A>C	ENSP00000505319.1:p.Asp2147Ala
ENST00000680218.1:c.6434A>C	ENSP00000505339.1:p.Asp2145Ala
ENST00000680668.1:c.6440A>C	ENSP00000506336.1:p.Asp2147Ala
ENST00000680778.1:c.4151A>C	ENSP00000506033.1:p.Asp1384Ala
ENST00000680924.1:c.*3954A>C	ENSP00000506031.1:n.*3954A>C
ENST00000681135.1:c.*4163A>C	ENSP00000506636.1:n.*4163A>C
ENST00000681298.1:n.4659A>C
ENST00000681454.1:c.*5790A>C	ENSP00000505763.1:n.*5790A>C
ENST00000277541.6:c.6554A>C	ENSP00000277541.6:p.Asp2185Ala
NM_017617.3:c.6554A>C	NP_060087.3:p.Asp2185Ala
XM_011518717.1:c.5855A>C	XP_011517019.1:p.Asp1952Ala
NM_017617.5:c.6554A>C MANE Select	NP_060087.3:p.Asp2185Ala
XM_011518717.2:c.5831A>C	XP_011517019.2:p.Asp1944Ala