Canonical Allele Identifier: CA375631802

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1326497239
• gnomAD v4: 9-136497320-C-T
• MyVariant Identifiers: chr9:g.139391772C>T (hg19) ; chr9:g.136497320C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497320C>T , CM000671.2:g.136497320C>T	GRCh38
NC_000009.11:g.139391772C>T , CM000671.1:g.139391772C>T	GRCh37
NC_000009.10:g.138511593C>T	NCBI36
NG_007458.1:g.53467G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6419G>A MANE Select	ENSP00000498587.1:p.Cys2140Tyr
ENST00000679595.1:c.*1459G>A	ENSP00000506241.1:n.*1459G>A
ENST00000679969.1:n.3015G>A
ENST00000680003.1:n.2751G>A
ENST00000680133.1:c.6305G>A	ENSP00000505319.1:p.Cys2102Tyr
ENST00000680218.1:c.6299G>A	ENSP00000505339.1:p.Cys2100Tyr
ENST00000680668.1:c.6305G>A	ENSP00000506336.1:p.Cys2102Tyr
ENST00000680778.1:c.4016G>A	ENSP00000506033.1:p.Cys1339Tyr
ENST00000680924.1:c.*3819G>A	ENSP00000506031.1:n.*3819G>A
ENST00000681135.1:c.*4028G>A	ENSP00000506636.1:n.*4028G>A
ENST00000681298.1:n.4524G>A
ENST00000681454.1:c.*5655G>A	ENSP00000505763.1:n.*5655G>A
ENST00000277541.6:c.6419G>A	ENSP00000277541.6:p.Cys2140Tyr
NM_017617.3:c.6419G>A	NP_060087.3:p.Cys2140Tyr
XM_011518717.1:c.5720G>A	XP_011517019.1:p.Cys1907Tyr
NM_017617.5:c.6419G>A MANE Select	NP_060087.3:p.Cys2140Tyr
XM_011518717.2:c.5696G>A	XP_011517019.2:p.Cys1899Tyr