Canonical Allele Identifier: CA375645408

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1444099559
• gnomAD v4: 9-136504987-C-A
• MyVariant Identifiers: chr9:g.139399439C>A (hg19) ; chr9:g.136504987C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504987C>A , CM000671.2:g.136504987C>A	GRCh38
NC_000009.11:g.139399439C>A , CM000671.1:g.139399439C>A	GRCh37
NC_000009.10:g.138519260C>A	NCBI36
NG_007458.1:g.45800G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2511G>T
ENST00000651671.1:c.4704G>T MANE Select	ENSP00000498587.1:p.Arg1568Ser
ENST00000679595.1:c.4704G>T	ENSP00000506241.1:p.Arg1568Ser
ENST00000680133.1:c.4590G>T	ENSP00000505319.1:p.Arg1530Ser
ENST00000680218.1:c.4584G>T	ENSP00000505339.1:p.Arg1528Ser
ENST00000680668.1:c.4590G>T	ENSP00000506336.1:p.Arg1530Ser
ENST00000680778.1:c.2301G>T	ENSP00000506033.1:p.Arg767Ser
ENST00000680924.1:c.*2104G>T	ENSP00000506031.1:n.*2104G>T
ENST00000681135.1:c.*2313G>T	ENSP00000506636.1:n.*2313G>T
ENST00000681298.1:n.1517G>T
ENST00000681454.1:c.*3940G>T	ENSP00000505763.1:n.*3940G>T
ENST00000277541.6:c.4704G>T	ENSP00000277541.6:p.Arg1568Ser
NM_017617.3:c.4704G>T	NP_060087.3:p.Arg1568Ser
XM_011518717.1:c.4005G>T	XP_011517019.1:p.Arg1335Ser
NM_017617.5:c.4704G>T MANE Select	NP_060087.3:p.Arg1568Ser
XM_011518717.2:c.3981G>T	XP_011517019.2:p.Arg1327Ser