Canonical Allele Identifier: CA375631126

Gene: NOTCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497146G>C , CM000671.2:g.136497146G>C	GRCh38
NC_000009.11:g.139391598G>C , CM000671.1:g.139391598G>C	GRCh37
NC_000009.10:g.138511419G>C	NCBI36
NG_007458.1:g.53641C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_017617.5:c.6593C>G MANE Select	NP_060087.3:p.Ser2198Trp
ENST00000651671.1:c.6593C>G MANE Select	ENSP00000498587.1:p.Ser2198Trp
NM_017617.3:c.6593C>G	NP_060087.3:p.Ser2198Trp
ENST00000277541.6:c.6593C>G	ENSP00000277541.6:p.Ser2198Trp
ENST00000679595.1:c.*1633C>G	ENSP00000506241.1:n.*1633C>G
ENST00000679969.1:n.3189C>G
ENST00000680003.1:n.2925C>G
ENST00000680133.1:c.6479C>G	ENSP00000505319.1:p.Ser2160Trp
ENST00000680218.1:c.6473C>G	ENSP00000505339.1:p.Ser2158Trp
ENST00000680668.1:c.6479C>G	ENSP00000506336.1:p.Ser2160Trp
ENST00000680778.1:c.4190C>G	ENSP00000506033.1:p.Ser1397Trp
ENST00000680924.1:c.*3993C>G	ENSP00000506031.1:n.*3993C>G
ENST00000681135.1:c.*4202C>G	ENSP00000506636.1:n.*4202C>G
ENST00000681298.1:n.4698C>G
ENST00000681454.1:c.*5829C>G	ENSP00000505763.1:n.*5829C>G
XM_011518717.1:c.5894C>G	XP_011517019.1:p.Ser1965Trp
XM_011518717.2:c.5870C>G	XP_011517019.2:p.Ser1957Trp