Canonical Allele Identifier: CA375633814

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139393376G>A (hg19) ; chr9:g.136498924G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136498924G>A , CM000671.2:g.136498924G>A	GRCh38
NC_000009.11:g.139393376G>A , CM000671.1:g.139393376G>A	GRCh37
NC_000009.10:g.138513197G>A	NCBI36
NG_007458.1:g.51863C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6155C>T MANE Select	ENSP00000498587.1:p.Ala2052Val
ENST00000679595.1:c.*1195C>T	ENSP00000506241.1:n.*1195C>T
ENST00000679969.1:n.2751C>T
ENST00000680003.1:n.2487C>T
ENST00000680133.1:c.6041C>T	ENSP00000505319.1:p.Ala2014Val
ENST00000680218.1:c.6035C>T	ENSP00000505339.1:p.Ala2012Val
ENST00000680668.1:c.6041C>T	ENSP00000506336.1:p.Ala2014Val
ENST00000680778.1:c.3752C>T	ENSP00000506033.1:p.Ala1251Val
ENST00000680924.1:c.*3555C>T	ENSP00000506031.1:n.*3555C>T
ENST00000681135.1:c.*3764C>T	ENSP00000506636.1:n.*3764C>T
ENST00000681298.1:n.4260C>T
ENST00000681454.1:c.*5391C>T	ENSP00000505763.1:n.*5391C>T
ENST00000277541.6:c.6155C>T	ENSP00000277541.6:p.Ala2052Val
NM_017617.3:c.6155C>T	NP_060087.3:p.Ala2052Val
XM_011518717.1:c.5456C>T	XP_011517019.1:p.Ala1819Val
NM_017617.5:c.6155C>T MANE Select	NP_060087.3:p.Ala2052Val
XM_011518717.2:c.5432C>T	XP_011517019.2:p.Ala1811Val