Canonical Allele Identifier: CA5339648
Gene: NOTCH1 HGNC NCBI
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136496140G>A , CM000671.2:g.136496140G>A GRCh38
NC_000009.11:g.139390592G>A , CM000671.1:g.139390592G>A GRCh37
NC_000009.10:g.138510413G>A NCBI36
NG_007458.1:g.54647C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000651671.1:c.7599C>T MANE Select ENSP00000498587.1:p.Ser2533=
ENST00000679595.1:c.*2639C>T ENSP00000506241.1:n.*2639C>T
ENST00000679969.1:n.4195C>T
ENST00000680003.1:n.3931C>T
ENST00000680133.1:c.7485C>T ENSP00000505319.1:p.Ser2495=
ENST00000680218.1:c.7479C>T ENSP00000505339.1:p.Ser2493=
ENST00000680668.1:c.7485C>T ENSP00000506336.1:p.Ser2495=
ENST00000680778.1:c.5196C>T ENSP00000506033.1:p.Ser1732=
ENST00000680924.1:c.*4999C>T ENSP00000506031.1:n.*4999C>T
ENST00000681135.1:c.*5208C>T ENSP00000506636.1:n.*5208C>T
ENST00000681298.1:n.5704C>T
ENST00000681454.1:c.*6835C>T ENSP00000505763.1:n.*6835C>T
ENST00000277541.6:c.7599C>T ENSP00000277541.6:p.Ser2533=
NM_017617.3:c.7599C>T NP_060087.3:p.Ser2533=
XM_011518717.1:c.6900C>T XP_011517019.1:p.Ser2300=
NM_017617.5:c.7599C>T MANE Select NP_060087.3:p.Ser2533=
XM_011518717.2:c.6876C>T XP_011517019.2:p.Ser2292=