Canonical Allele Identifier: CA375631378

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133318125
• MyVariant Identifiers: chr9:g.139391661T>A (hg19) ; chr9:g.136497209T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497209T>A , CM000671.2:g.136497209T>A	GRCh38
NC_000009.11:g.139391661T>A , CM000671.1:g.139391661T>A	GRCh37
NC_000009.10:g.138511482T>A	NCBI36
NG_007458.1:g.53578A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6530A>T MANE Select	ENSP00000498587.1:p.Lys2177Met
ENST00000679595.1:c.*1570A>T	ENSP00000506241.1:n.*1570A>T
ENST00000679969.1:n.3126A>T
ENST00000680003.1:n.2862A>T
ENST00000680133.1:c.6416A>T	ENSP00000505319.1:p.Lys2139Met
ENST00000680218.1:c.6410A>T	ENSP00000505339.1:p.Lys2137Met
ENST00000680668.1:c.6416A>T	ENSP00000506336.1:p.Lys2139Met
ENST00000680778.1:c.4127A>T	ENSP00000506033.1:p.Lys1376Met
ENST00000680924.1:c.*3930A>T	ENSP00000506031.1:n.*3930A>T
ENST00000681135.1:c.*4139A>T	ENSP00000506636.1:n.*4139A>T
ENST00000681298.1:n.4635A>T
ENST00000681454.1:c.*5766A>T	ENSP00000505763.1:n.*5766A>T
ENST00000277541.6:c.6530A>T	ENSP00000277541.6:p.Lys2177Met
NM_017617.3:c.6530A>T	NP_060087.3:p.Lys2177Met
XM_011518717.1:c.5831A>T	XP_011517019.1:p.Lys1944Met
NM_017617.5:c.6530A>T MANE Select	NP_060087.3:p.Lys2177Met
XM_011518717.2:c.5807A>T	XP_011517019.2:p.Lys1936Met