Canonical Allele Identifier: CA5340048

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 509013
• ClinVar RCV Id: RCV001454557 ; RCV001707754 ; RCV002270765 ; RCV003160085
• dbSNP Id: rs375920679
• ExAC: 9:139393577 G / A
• gnomAD v2: 9-139393577-G-A
• gnomAD v3: 9-136499125-G-A
• gnomAD v4: 9-136499125-G-A
• MyVariant Identifiers: chr9:g.139393577G>A (hg19) ; chr9:g.136499125G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136499125G>A , CM000671.2:g.136499125G>A	GRCh38
NC_000009.11:g.139393577G>A , CM000671.1:g.139393577G>A	GRCh37
NC_000009.10:g.138513398G>A	NCBI36
NG_007458.1:g.51662C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6069C>T MANE Select	ENSP00000498587.1:p.Ala2023=
ENST00000679595.1:c.*1109C>T	ENSP00000506241.1:n.*1109C>T
ENST00000679969.1:n.2550C>T
ENST00000680003.1:n.2401C>T
ENST00000680133.1:c.5955C>T	ENSP00000505319.1:p.Ala1985=
ENST00000680218.1:c.5949C>T	ENSP00000505339.1:p.Ala1983=
ENST00000680668.1:c.5955C>T	ENSP00000506336.1:p.Ala1985=
ENST00000680778.1:c.3666C>T	ENSP00000506033.1:p.Ala1222=
ENST00000680924.1:c.*3469C>T	ENSP00000506031.1:n.*3469C>T
ENST00000681135.1:c.*3678C>T	ENSP00000506636.1:n.*3678C>T
ENST00000681298.1:n.4174C>T
ENST00000681454.1:c.*5305C>T	ENSP00000505763.1:n.*5305C>T
ENST00000277541.6:c.6069C>T	ENSP00000277541.6:p.Ala2023=
NM_017617.3:c.6069C>T	NP_060087.3:p.Ala2023=
XM_011518717.1:c.5370C>T	XP_011517019.1:p.Ala1790=
NM_017617.5:c.6069C>T MANE Select	NP_060087.3:p.Ala2023=
XM_011518717.2:c.5346C>T	XP_011517019.2:p.Ala1782=