Canonical Allele Identifier: CA375631133

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139391599A>T (hg19) ; chr9:g.136497147A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497147A>T , CM000671.2:g.136497147A>T	GRCh38
NC_000009.11:g.139391599A>T , CM000671.1:g.139391599A>T	GRCh37
NC_000009.10:g.138511420A>T	NCBI36
NG_007458.1:g.53640T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6592T>A MANE Select	ENSP00000498587.1:p.Ser2198Thr
ENST00000679595.1:c.*1632T>A	ENSP00000506241.1:n.*1632T>A
ENST00000679969.1:n.3188T>A
ENST00000680003.1:n.2924T>A
ENST00000680133.1:c.6478T>A	ENSP00000505319.1:p.Ser2160Thr
ENST00000680218.1:c.6472T>A	ENSP00000505339.1:p.Ser2158Thr
ENST00000680668.1:c.6478T>A	ENSP00000506336.1:p.Ser2160Thr
ENST00000680778.1:c.4189T>A	ENSP00000506033.1:p.Ser1397Thr
ENST00000680924.1:c.*3992T>A	ENSP00000506031.1:n.*3992T>A
ENST00000681135.1:c.*4201T>A	ENSP00000506636.1:n.*4201T>A
ENST00000681298.1:n.4697T>A
ENST00000681454.1:c.*5828T>A	ENSP00000505763.1:n.*5828T>A
ENST00000277541.6:c.6592T>A	ENSP00000277541.6:p.Ser2198Thr
NM_017617.3:c.6592T>A	NP_060087.3:p.Ser2198Thr
XM_011518717.1:c.5893T>A	XP_011517019.1:p.Ser1965Thr
NM_017617.5:c.6592T>A MANE Select	NP_060087.3:p.Ser2198Thr
XM_011518717.2:c.5869T>A	XP_011517019.2:p.Ser1957Thr