Canonical Allele Identifier: CA375631910

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139391832C>A (hg19) ; chr9:g.136497380C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497380C>A , CM000671.2:g.136497380C>A	GRCh38
NC_000009.11:g.139391832C>A , CM000671.1:g.139391832C>A	GRCh37
NC_000009.10:g.138511653C>A	NCBI36
NG_007458.1:g.53407G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6359G>T MANE Select	ENSP00000498587.1:p.Arg2120Leu
ENST00000679595.1:c.*1399G>T	ENSP00000506241.1:n.*1399G>T
ENST00000679969.1:n.2955G>T
ENST00000680003.1:n.2691G>T
ENST00000680133.1:c.6245G>T	ENSP00000505319.1:p.Arg2082Leu
ENST00000680218.1:c.6239G>T	ENSP00000505339.1:p.Arg2080Leu
ENST00000680668.1:c.6245G>T	ENSP00000506336.1:p.Arg2082Leu
ENST00000680778.1:c.3956G>T	ENSP00000506033.1:p.Arg1319Leu
ENST00000680924.1:c.*3759G>T	ENSP00000506031.1:n.*3759G>T
ENST00000681135.1:c.*3968G>T	ENSP00000506636.1:n.*3968G>T
ENST00000681298.1:n.4464G>T
ENST00000681454.1:c.*5595G>T	ENSP00000505763.1:n.*5595G>T
ENST00000277541.6:c.6359G>T	ENSP00000277541.6:p.Arg2120Leu
NM_017617.3:c.6359G>T	NP_060087.3:p.Arg2120Leu
XM_011518717.1:c.5660G>T	XP_011517019.1:p.Arg1887Leu
NM_017617.5:c.6359G>T MANE Select	NP_060087.3:p.Arg2120Leu
XM_011518717.2:c.5636G>T	XP_011517019.2:p.Arg1879Leu