Canonical Allele Identifier: CA375631206

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1174848058
• gnomAD v4: 9-136497165-C-A
• MyVariant Identifiers: chr9:g.139391617C>A (hg19) ; chr9:g.136497165C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497165C>A , CM000671.2:g.136497165C>A	GRCh38
NC_000009.11:g.139391617C>A , CM000671.1:g.139391617C>A	GRCh37
NC_000009.10:g.138511438C>A	NCBI36
NG_007458.1:g.53622G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6574G>T MANE Select	ENSP00000498587.1:p.Asp2192Tyr
ENST00000679595.1:c.*1614G>T	ENSP00000506241.1:n.*1614G>T
ENST00000679969.1:n.3170G>T
ENST00000680003.1:n.2906G>T
ENST00000680133.1:c.6460G>T	ENSP00000505319.1:p.Asp2154Tyr
ENST00000680218.1:c.6454G>T	ENSP00000505339.1:p.Asp2152Tyr
ENST00000680668.1:c.6460G>T	ENSP00000506336.1:p.Asp2154Tyr
ENST00000680778.1:c.4171G>T	ENSP00000506033.1:p.Asp1391Tyr
ENST00000680924.1:c.*3974G>T	ENSP00000506031.1:n.*3974G>T
ENST00000681135.1:c.*4183G>T	ENSP00000506636.1:n.*4183G>T
ENST00000681298.1:n.4679G>T
ENST00000681454.1:c.*5810G>T	ENSP00000505763.1:n.*5810G>T
ENST00000277541.6:c.6574G>T	ENSP00000277541.6:p.Asp2192Tyr
NM_017617.3:c.6574G>T	NP_060087.3:p.Asp2192Tyr
XM_011518717.1:c.5875G>T	XP_011517019.1:p.Asp1959Tyr
NM_017617.5:c.6574G>T MANE Select	NP_060087.3:p.Asp2192Tyr
XM_011518717.2:c.5851G>T	XP_011517019.2:p.Asp1951Tyr