Canonical Allele Identifier: CA375631144

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133317857
• gnomAD v4: 9-136497150-G-A
• MyVariant Identifiers: chr9:g.139391602G>A (hg19) ; chr9:g.136497150G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497150G>A , CM000671.2:g.136497150G>A	GRCh38
NC_000009.11:g.139391602G>A , CM000671.1:g.139391602G>A	GRCh37
NC_000009.10:g.138511423G>A	NCBI36
NG_007458.1:g.53637C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6589C>T MANE Select	ENSP00000498587.1:p.Leu2197Phe
ENST00000679595.1:c.*1629C>T	ENSP00000506241.1:n.*1629C>T
ENST00000679969.1:n.3185C>T
ENST00000680003.1:n.2921C>T
ENST00000680133.1:c.6475C>T	ENSP00000505319.1:p.Leu2159Phe
ENST00000680218.1:c.6469C>T	ENSP00000505339.1:p.Leu2157Phe
ENST00000680668.1:c.6475C>T	ENSP00000506336.1:p.Leu2159Phe
ENST00000680778.1:c.4186C>T	ENSP00000506033.1:p.Leu1396Phe
ENST00000680924.1:c.*3989C>T	ENSP00000506031.1:n.*3989C>T
ENST00000681135.1:c.*4198C>T	ENSP00000506636.1:n.*4198C>T
ENST00000681298.1:n.4694C>T
ENST00000681454.1:c.*5825C>T	ENSP00000505763.1:n.*5825C>T
ENST00000277541.6:c.6589C>T	ENSP00000277541.6:p.Leu2197Phe
NM_017617.3:c.6589C>T	NP_060087.3:p.Leu2197Phe
XM_011518717.1:c.5890C>T	XP_011517019.1:p.Leu1964Phe
NM_017617.5:c.6589C>T MANE Select	NP_060087.3:p.Leu2197Phe
XM_011518717.2:c.5866C>T	XP_011517019.2:p.Leu1956Phe