Canonical Allele Identifier: CA5340053

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 409043
• ClinVar RCV Id: RCV000469574 ; RCV002481433 ; RCV004022714
• dbSNP Id: rs752928106
• ExAC: 9:139393588 C / T
• gnomAD v2: 9-139393588-C-T
• gnomAD v3: 9-136499136-C-T
• gnomAD v4: 9-136499136-C-T
• COSMIC: COSM5738787 ; COSM5738788
• MyVariant Identifiers: chr9:g.139393588C>T (hg19) ; chr9:g.136499136C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136499136C>T , CM000671.2:g.136499136C>T	GRCh38
NC_000009.11:g.139393588C>T , CM000671.1:g.139393588C>T	GRCh37
NC_000009.10:g.138513409C>T	NCBI36
NG_007458.1:g.51651G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6058G>A MANE Select	ENSP00000498587.1:p.Asp2020Asn
ENST00000679595.1:c.*1098G>A	ENSP00000506241.1:n.*1098G>A
ENST00000679969.1:n.2539G>A
ENST00000680003.1:n.2390G>A
ENST00000680133.1:c.5944G>A	ENSP00000505319.1:p.Asp1982Asn
ENST00000680218.1:c.5938G>A	ENSP00000505339.1:p.Asp1980Asn
ENST00000680668.1:c.5944G>A	ENSP00000506336.1:p.Asp1982Asn
ENST00000680778.1:c.3655G>A	ENSP00000506033.1:p.Asp1219Asn
ENST00000680924.1:c.*3458G>A	ENSP00000506031.1:n.*3458G>A
ENST00000681135.1:c.*3667G>A	ENSP00000506636.1:n.*3667G>A
ENST00000681298.1:n.4163G>A
ENST00000681454.1:c.*5294G>A	ENSP00000505763.1:n.*5294G>A
ENST00000277541.6:c.6058G>A	ENSP00000277541.6:p.Asp2020Asn
NM_017617.3:c.6058G>A	NP_060087.3:p.Asp2020Asn
XM_011518717.1:c.5359G>A	XP_011517019.1:p.Asp1787Asn
NM_017617.5:c.6058G>A MANE Select	NP_060087.3:p.Asp2020Asn
XM_011518717.2:c.5335G>A	XP_011517019.2:p.Asp1779Asn