Canonical Allele Identifier: CA5340482

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 1111147
• ClinVar RCV Id: RCV001437619
• dbSNP Id: rs780348772
• ExAC: 9:139399133 G / A
• gnomAD v2: 9-139399133-G-A
• gnomAD v3: 9-136504681-G-A
• gnomAD v4: 9-136504681-G-A
• MyVariant Identifiers: chr9:g.139399133G>A (hg19) ; chr9:g.136504681G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504681G>A , CM000671.2:g.136504681G>A	GRCh38
NC_000009.11:g.139399133G>A , CM000671.1:g.139399133G>A	GRCh37
NC_000009.10:g.138518954G>A	NCBI36
NG_007458.1:g.46106C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2817C>T
ENST00000651671.1:c.5010C>T MANE Select	ENSP00000498587.1:p.Asp1670=
ENST00000679595.1:c.5010C>T	ENSP00000506241.1:p.Asp1670=
ENST00000680133.1:c.4896C>T	ENSP00000505319.1:p.Asp1632=
ENST00000680218.1:c.4890C>T	ENSP00000505339.1:p.Asp1630=
ENST00000680668.1:c.4896C>T	ENSP00000506336.1:p.Asp1632=
ENST00000680778.1:c.2607C>T	ENSP00000506033.1:p.Asp869=
ENST00000680924.1:c.*2410C>T	ENSP00000506031.1:n.*2410C>T
ENST00000681135.1:c.*2619C>T	ENSP00000506636.1:n.*2619C>T
ENST00000681298.1:n.1823C>T
ENST00000681454.1:c.*4246C>T	ENSP00000505763.1:n.*4246C>T
ENST00000277541.6:c.5010C>T	ENSP00000277541.6:p.Asp1670=
ENST00000494783.1:n.165C>T
NM_017617.3:c.5010C>T	NP_060087.3:p.Asp1670=
XM_011518717.1:c.4311C>T	XP_011517019.1:p.Asp1437=
NM_017617.5:c.5010C>T MANE Select	NP_060087.3:p.Asp1670=
XM_011518717.2:c.4287C>T	XP_011517019.2:p.Asp1429=