Canonical Allele Identifier: CA16605771

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 390637
• ClinVar RCV Id: RCV000442451 ; RCV002522589
• dbSNP Id: rs935662425
• gnomAD v3: 9-136499011-C-G
• gnomAD v4: 9-136499011-C-G
• MyVariant Identifiers: chr9:g.139393463C>G (hg19) ; chr9:g.136499011C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136499011C>G , CM000671.2:g.136499011C>G	GRCh38
NC_000009.11:g.139393463C>G , CM000671.1:g.139393463C>G	GRCh37
NC_000009.10:g.138513284C>G	NCBI36
NG_007458.1:g.51776G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6083-15G>C MANE Select	ENSP00000498587.1:n.6083-15G>C
ENST00000679595.1:c.*1123-15G>C	ENSP00000506241.1:n.*1123-15G>C
ENST00000679969.1:n.2664G>C
ENST00000680003.1:n.2415-15G>C
ENST00000680133.1:c.5969-15G>C	ENSP00000505319.1:n.5969-15G>C
ENST00000680218.1:c.5963-15G>C	ENSP00000505339.1:n.5963-15G>C
ENST00000680668.1:c.5969-15G>C	ENSP00000506336.1:n.5969-15G>C
ENST00000680778.1:c.3680-15G>C	ENSP00000506033.1:n.3680-15G>C
ENST00000680924.1:c.*3483-15G>C	ENSP00000506031.1:n.*3483-15G>C
ENST00000681135.1:c.*3692-15G>C	ENSP00000506636.1:n.*3692-15G>C
ENST00000681298.1:n.4188-15G>C
ENST00000681454.1:c.*5319-15G>C	ENSP00000505763.1:n.*5319-15G>C
ENST00000277541.6:c.6083-15G>C	ENSP00000277541.6:n.6083-15G>C
NM_017617.3:c.6083-15G>C	NP_060087.3:n.6083-15G>C
XM_011518717.1:c.5384-15G>C	XP_011517019.1:n.5384-15G>C
NM_017617.5:c.6083-15G>C MANE Select	NP_060087.3:n.6083-15G>C
XM_011518717.2:c.5360-15G>C	XP_011517019.2:n.5360-15G>C