Canonical Allele Identifier: CA5340023

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 2195802
• ClinVar RCV Id: RCV002628955
• dbSNP Id: rs770358205
• ExAC: 9:139393451 G / A
• gnomAD v2: 9-139393451-G-A
• gnomAD v4: 9-136498999-G-A
• MyVariant Identifiers: chr9:g.139393451G>A (hg19) ; chr9:g.136498999G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136498999G>A , CM000671.2:g.136498999G>A	GRCh38
NC_000009.11:g.139393451G>A , CM000671.1:g.139393451G>A	GRCh37
NC_000009.10:g.138513272G>A	NCBI36
NG_007458.1:g.51788C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6083-3C>T MANE Select	ENSP00000498587.1:n.6083-3C>T
ENST00000679595.1:c.*1123-3C>T	ENSP00000506241.1:n.*1123-3C>T
ENST00000679969.1:n.2676C>T
ENST00000680003.1:n.2415-3C>T
ENST00000680133.1:c.5969-3C>T	ENSP00000505319.1:n.5969-3C>T
ENST00000680218.1:c.5963-3C>T	ENSP00000505339.1:n.5963-3C>T
ENST00000680668.1:c.5969-3C>T	ENSP00000506336.1:n.5969-3C>T
ENST00000680778.1:c.3680-3C>T	ENSP00000506033.1:n.3680-3C>T
ENST00000680924.1:c.*3483-3C>T	ENSP00000506031.1:n.*3483-3C>T
ENST00000681135.1:c.*3692-3C>T	ENSP00000506636.1:n.*3692-3C>T
ENST00000681298.1:n.4188-3C>T
ENST00000681454.1:c.*5319-3C>T	ENSP00000505763.1:n.*5319-3C>T
ENST00000277541.6:c.6083-3C>T	ENSP00000277541.6:n.6083-3C>T
NM_017617.3:c.6083-3C>T	NP_060087.3:n.6083-3C>T
XM_011518717.1:c.5384-3C>T	XP_011517019.1:n.5384-3C>T
NM_017617.5:c.6083-3C>T MANE Select	NP_060087.3:n.6083-3C>T
XM_011518717.2:c.5360-3C>T	XP_011517019.2:n.5360-3C>T