Canonical Allele Identifier: CA375631282

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139391636G>C (hg19) ; chr9:g.136497184G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497184G>C , CM000671.2:g.136497184G>C	GRCh38
NC_000009.11:g.139391636G>C , CM000671.1:g.139391636G>C	GRCh37
NC_000009.10:g.138511457G>C	NCBI36
NG_007458.1:g.53603C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6555C>G MANE Select	ENSP00000498587.1:p.Asp2185Glu
ENST00000679595.1:c.*1595C>G	ENSP00000506241.1:n.*1595C>G
ENST00000679969.1:n.3151C>G
ENST00000680003.1:n.2887C>G
ENST00000680133.1:c.6441C>G	ENSP00000505319.1:p.Asp2147Glu
ENST00000680218.1:c.6435C>G	ENSP00000505339.1:p.Asp2145Glu
ENST00000680668.1:c.6441C>G	ENSP00000506336.1:p.Asp2147Glu
ENST00000680778.1:c.4152C>G	ENSP00000506033.1:p.Asp1384Glu
ENST00000680924.1:c.*3955C>G	ENSP00000506031.1:n.*3955C>G
ENST00000681135.1:c.*4164C>G	ENSP00000506636.1:n.*4164C>G
ENST00000681298.1:n.4660C>G
ENST00000681454.1:c.*5791C>G	ENSP00000505763.1:n.*5791C>G
ENST00000277541.6:c.6555C>G	ENSP00000277541.6:p.Asp2185Glu
NM_017617.3:c.6555C>G	NP_060087.3:p.Asp2185Glu
XM_011518717.1:c.5856C>G	XP_011517019.1:p.Asp1952Glu
NM_017617.5:c.6555C>G MANE Select	NP_060087.3:p.Asp2185Glu
XM_011518717.2:c.5832C>G	XP_011517019.2:p.Asp1944Glu