Canonical Allele Identifier: CA5340571

Gene: NOTCH1

Linked Data

• dbSNP Id: rs371872702
• ExAC: 9:139399584 G / A
• gnomAD v2: 9-139399584-G-A
• gnomAD v3: 9-136505132-G-A
• gnomAD v4: 9-136505132-G-A
• MyVariant Identifiers: chr9:g.139399584G>A (hg19) ; chr9:g.136505132G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136505132G>A , CM000671.2:g.136505132G>A	GRCh38
NC_000009.11:g.139399584G>A , CM000671.1:g.139399584G>A	GRCh37
NC_000009.10:g.138519405G>A	NCBI36
NG_007458.1:g.45655C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2394-28C>T
ENST00000651671.1:c.4587-28C>T MANE Select	ENSP00000498587.1:n.4587-28C>T
ENST00000679595.1:c.4587-28C>T	ENSP00000506241.1:n.4587-28C>T
ENST00000680133.1:c.4473-28C>T	ENSP00000505319.1:n.4473-28C>T
ENST00000680218.1:c.4467-28C>T	ENSP00000505339.1:n.4467-28C>T
ENST00000680668.1:c.4473-28C>T	ENSP00000506336.1:n.4473-28C>T
ENST00000680778.1:c.2184-28C>T	ENSP00000506033.1:n.2184-28C>T
ENST00000680924.1:c.*1987-28C>T	ENSP00000506031.1:n.*1987-28C>T
ENST00000681135.1:c.*2196-28C>T	ENSP00000506636.1:n.*2196-28C>T
ENST00000681298.1:n.1400-28C>T
ENST00000681454.1:c.*3823-28C>T	ENSP00000505763.1:n.*3823-28C>T
ENST00000277541.6:c.4587-28C>T	ENSP00000277541.6:n.4587-28C>T
NM_017617.3:c.4587-28C>T	NP_060087.3:n.4587-28C>T
XM_011518717.1:c.3888-28C>T	XP_011517019.1:n.3888-28C>T
NM_017617.5:c.4587-28C>T MANE Select	NP_060087.3:n.4587-28C>T
XM_011518717.2:c.3864-28C>T	XP_011517019.2:n.3864-28C>T