Canonical Allele Identifier: CA375631127

Gene: NOTCH1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6593C>A MANE Select	ENSP00000498587.1:p.Ser2198Ter
ENST00000679595.1:c.*1633C>A	ENSP00000506241.1:n.*1633C>A
ENST00000679969.1:n.3189C>A
ENST00000680003.1:n.2925C>A
ENST00000680133.1:c.6479C>A	ENSP00000505319.1:p.Ser2160Ter
ENST00000680218.1:c.6473C>A	ENSP00000505339.1:p.Ser2158Ter
ENST00000680668.1:c.6479C>A	ENSP00000506336.1:p.Ser2160Ter
ENST00000680778.1:c.4190C>A	ENSP00000506033.1:p.Ser1397Ter
ENST00000680924.1:c.*3993C>A	ENSP00000506031.1:n.*3993C>A
ENST00000681135.1:c.*4202C>A	ENSP00000506636.1:n.*4202C>A
ENST00000681298.1:n.4698C>A
ENST00000681454.1:c.*5829C>A	ENSP00000505763.1:n.*5829C>A
ENST00000277541.6:c.6593C>A	ENSP00000277541.6:p.Ser2198Ter
NM_017617.3:c.6593C>A	NP_060087.3:p.Ser2198Ter
XM_011518717.1:c.5894C>A	XP_011517019.1:p.Ser1965Ter
NM_017617.5:c.6593C>A MANE Select	NP_060087.3:p.Ser2198Ter
XM_011518717.2:c.5870C>A	XP_011517019.2:p.Ser1957Ter