Canonical Allele Identifier: CA5339878
Gene: NOTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1979659
dbSNP Id: rs768400804

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136497204G>A , CM000671.2:g.136497204G>A GRCh38
NC_000009.11:g.139391656G>A , CM000671.1:g.139391656G>A GRCh37
NC_000009.10:g.138511477G>A NCBI36
NG_007458.1:g.53583C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000651671.1:c.6535C>T MANE Select ENSP00000498587.1:p.Arg2179Trp
ENST00000679595.1:c.*1575C>T ENSP00000506241.1:n.*1575C>T
ENST00000679969.1:n.3131C>T
ENST00000680003.1:n.2867C>T
ENST00000680133.1:c.6421C>T ENSP00000505319.1:p.Arg2141Trp
ENST00000680218.1:c.6415C>T ENSP00000505339.1:p.Arg2139Trp
ENST00000680668.1:c.6421C>T ENSP00000506336.1:p.Arg2141Trp
ENST00000680778.1:c.4132C>T ENSP00000506033.1:p.Arg1378Trp
ENST00000680924.1:c.*3935C>T ENSP00000506031.1:n.*3935C>T
ENST00000681135.1:c.*4144C>T ENSP00000506636.1:n.*4144C>T
ENST00000681298.1:n.4640C>T
ENST00000681454.1:c.*5771C>T ENSP00000505763.1:n.*5771C>T
ENST00000277541.6:c.6535C>T ENSP00000277541.6:p.Arg2179Trp
NM_017617.3:c.6535C>T NP_060087.3:p.Arg2179Trp
XM_011518717.1:c.5836C>T XP_011517019.1:p.Arg1946Trp
NM_017617.5:c.6535C>T MANE Select NP_060087.3:p.Arg2179Trp
XM_011518717.2:c.5812C>T XP_011517019.2:p.Arg1938Trp