Canonical Allele Identifier: CA375631572

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1282189149
• gnomAD v2: 9-139391713-T-C
• gnomAD v4: 9-136497261-T-C
• MyVariant Identifiers: chr9:g.139391713T>C (hg19) ; chr9:g.136497261T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497261T>C , CM000671.2:g.136497261T>C	GRCh38
NC_000009.11:g.139391713T>C , CM000671.1:g.139391713T>C	GRCh37
NC_000009.10:g.138511534T>C	NCBI36
NG_007458.1:g.53526A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6478A>G MANE Select	ENSP00000498587.1:p.Lys2160Glu
ENST00000679595.1:c.*1518A>G	ENSP00000506241.1:n.*1518A>G
ENST00000679969.1:n.3074A>G
ENST00000680003.1:n.2810A>G
ENST00000680133.1:c.6364A>G	ENSP00000505319.1:p.Lys2122Glu
ENST00000680218.1:c.6358A>G	ENSP00000505339.1:p.Lys2120Glu
ENST00000680668.1:c.6364A>G	ENSP00000506336.1:p.Lys2122Glu
ENST00000680778.1:c.4075A>G	ENSP00000506033.1:p.Lys1359Glu
ENST00000680924.1:c.*3878A>G	ENSP00000506031.1:n.*3878A>G
ENST00000681135.1:c.*4087A>G	ENSP00000506636.1:n.*4087A>G
ENST00000681298.1:n.4583A>G
ENST00000681454.1:c.*5714A>G	ENSP00000505763.1:n.*5714A>G
ENST00000277541.6:c.6478A>G	ENSP00000277541.6:p.Lys2160Glu
NM_017617.3:c.6478A>G	NP_060087.3:p.Lys2160Glu
XM_011518717.1:c.5779A>G	XP_011517019.1:p.Lys1927Glu
NM_017617.5:c.6478A>G MANE Select	NP_060087.3:p.Lys2160Glu
XM_011518717.2:c.5755A>G	XP_011517019.2:p.Lys1919Glu