Canonical Allele Identifier: CA375631448

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139391677C>A (hg19) ; chr9:g.136497225C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497225C>A , CM000671.2:g.136497225C>A	GRCh38
NC_000009.11:g.139391677C>A , CM000671.1:g.139391677C>A	GRCh37
NC_000009.10:g.138511498C>A	NCBI36
NG_007458.1:g.53562G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6514G>T MANE Select	ENSP00000498587.1:p.Glu2172Ter
ENST00000679595.1:c.*1554G>T	ENSP00000506241.1:n.*1554G>T
ENST00000679969.1:n.3110G>T
ENST00000680003.1:n.2846G>T
ENST00000680133.1:c.6400G>T	ENSP00000505319.1:p.Glu2134Ter
ENST00000680218.1:c.6394G>T	ENSP00000505339.1:p.Glu2132Ter
ENST00000680668.1:c.6400G>T	ENSP00000506336.1:p.Glu2134Ter
ENST00000680778.1:c.4111G>T	ENSP00000506033.1:p.Glu1371Ter
ENST00000680924.1:c.*3914G>T	ENSP00000506031.1:n.*3914G>T
ENST00000681135.1:c.*4123G>T	ENSP00000506636.1:n.*4123G>T
ENST00000681298.1:n.4619G>T
ENST00000681454.1:c.*5750G>T	ENSP00000505763.1:n.*5750G>T
ENST00000277541.6:c.6514G>T	ENSP00000277541.6:p.Glu2172Ter
NM_017617.3:c.6514G>T	NP_060087.3:p.Glu2172Ter
XM_011518717.1:c.5815G>T	XP_011517019.1:p.Glu1939Ter
NM_017617.5:c.6514G>T MANE Select	NP_060087.3:p.Glu2172Ter
XM_011518717.2:c.5791G>T	XP_011517019.2:p.Glu1931Ter