Canonical Allele Identifier: CA10582643

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 241145
• ClinVar RCV Id: RCV000231030 ; RCV001697684 ; RCV002270047 ; RCV002313952
• dbSNP Id: rs367838230
• gnomAD v2: 9-139399172-G-A
• gnomAD v3: 9-136504720-G-A
• gnomAD v4: 9-136504720-G-A
• COSMIC: COSM308605
• MyVariant Identifiers: chr9:g.139399172G>A (hg19) ; chr9:g.136504720G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504720G>A , CM000671.2:g.136504720G>A	GRCh38
NC_000009.11:g.139399172G>A , CM000671.1:g.139399172G>A	GRCh37
NC_000009.10:g.138518993G>A	NCBI36
NG_007458.1:g.46067C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2778C>T
ENST00000651671.1:c.4971C>T MANE Select	ENSP00000498587.1:p.Ser1657=
ENST00000679595.1:c.4971C>T	ENSP00000506241.1:p.Ser1657=
ENST00000680133.1:c.4857C>T	ENSP00000505319.1:p.Ser1619=
ENST00000680218.1:c.4851C>T	ENSP00000505339.1:p.Ser1617=
ENST00000680668.1:c.4857C>T	ENSP00000506336.1:p.Ser1619=
ENST00000680778.1:c.2568C>T	ENSP00000506033.1:p.Ser856=
ENST00000680924.1:c.*2371C>T	ENSP00000506031.1:n.*2371C>T
ENST00000681135.1:c.*2580C>T	ENSP00000506636.1:n.*2580C>T
ENST00000681298.1:n.1784C>T
ENST00000681454.1:c.*4207C>T	ENSP00000505763.1:n.*4207C>T
ENST00000277541.6:c.4971C>T	ENSP00000277541.6:p.Ser1657=
ENST00000494783.1:n.126C>T
NM_017617.3:c.4971C>T	NP_060087.3:p.Ser1657=
XM_011518717.1:c.4272C>T	XP_011517019.1:p.Ser1424=
NM_017617.5:c.4971C>T MANE Select	NP_060087.3:p.Ser1657=
XM_011518717.2:c.4248C>T	XP_011517019.2:p.Ser1416=