Canonical Allele Identifier: CA375631678

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 1934747
• ClinVar RCV Id: RCV002622703
• dbSNP Id: rs1409851158
• gnomAD v2: 9-139391741-C-A
• gnomAD v3: 9-136497289-C-A
• gnomAD v4: 9-136497289-C-A
• MyVariant Identifiers: chr9:g.139391741C>A (hg19) ; chr9:g.136497289C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497289C>A , CM000671.2:g.136497289C>A	GRCh38
NC_000009.11:g.139391741C>A , CM000671.1:g.139391741C>A	GRCh37
NC_000009.10:g.138511562C>A	NCBI36
NG_007458.1:g.53498G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6450G>T MANE Select	ENSP00000498587.1:p.Lys2150Asn
ENST00000679595.1:c.*1490G>T	ENSP00000506241.1:n.*1490G>T
ENST00000679969.1:n.3046G>T
ENST00000680003.1:n.2782G>T
ENST00000680133.1:c.6336G>T	ENSP00000505319.1:p.Lys2112Asn
ENST00000680218.1:c.6330G>T	ENSP00000505339.1:p.Lys2110Asn
ENST00000680668.1:c.6336G>T	ENSP00000506336.1:p.Lys2112Asn
ENST00000680778.1:c.4047G>T	ENSP00000506033.1:p.Lys1349Asn
ENST00000680924.1:c.*3850G>T	ENSP00000506031.1:n.*3850G>T
ENST00000681135.1:c.*4059G>T	ENSP00000506636.1:n.*4059G>T
ENST00000681298.1:n.4555G>T
ENST00000681454.1:c.*5686G>T	ENSP00000505763.1:n.*5686G>T
ENST00000277541.6:c.6450G>T	ENSP00000277541.6:p.Lys2150Asn
NM_017617.3:c.6450G>T	NP_060087.3:p.Lys2150Asn
XM_011518717.1:c.5751G>T	XP_011517019.1:p.Lys1917Asn
NM_017617.5:c.6450G>T MANE Select	NP_060087.3:p.Lys2150Asn
XM_011518717.2:c.5727G>T	XP_011517019.2:p.Lys1909Asn