Canonical Allele Identifier: CA5340647

Gene: NOTCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136505583C>T , CM000671.2:g.136505583C>T	GRCh38
NC_000009.11:g.139400035C>T , CM000671.1:g.139400035C>T	GRCh37
NC_000009.10:g.138519856C>T	NCBI36
NG_007458.1:g.45204G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_017617.5:c.4313G>A MANE Select	NP_060087.3:p.Arg1438His
ENST00000651671.1:c.4313G>A MANE Select	ENSP00000498587.1:p.Arg1438His
NM_017617.3:c.4313G>A	NP_060087.3:p.Arg1438His
ENST00000277541.6:c.4313G>A	ENSP00000277541.6:p.Arg1438His
ENST00000645828.1:n.2120G>A
ENST00000679595.1:c.4313G>A	ENSP00000506241.1:p.Arg1438His
ENST00000680133.1:c.4199G>A	ENSP00000505319.1:p.Arg1400His
ENST00000680218.1:c.4193G>A	ENSP00000505339.1:p.Arg1398His
ENST00000680668.1:c.4199G>A	ENSP00000506336.1:p.Arg1400His
ENST00000680778.1:c.1910G>A	ENSP00000506033.1:p.Arg637His
ENST00000680924.1:c.*1713G>A	ENSP00000506031.1:n.*1713G>A
ENST00000681135.1:c.*1922G>A	ENSP00000506636.1:n.*1922G>A
ENST00000681298.1:n.1126G>A
ENST00000681454.1:c.*3549G>A	ENSP00000505763.1:n.*3549G>A
XM_011518717.1:c.3614G>A	XP_011517019.1:p.Arg1205His
XM_011518717.2:c.3590G>A	XP_011517019.2:p.Arg1197His