Canonical Allele Identifier: CA5340027

Gene: NOTCH1

Linked Data

• dbSNP Id: rs775407579
• ExAC: 9:139393461 A / C
• gnomAD v2: 9-139393461-A-C
• gnomAD v4: 9-136499009-A-C
• MyVariant Identifiers: chr9:g.139393461A>C (hg19) ; chr9:g.136499009A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136499009A>C , CM000671.2:g.136499009A>C	GRCh38
NC_000009.11:g.139393461A>C , CM000671.1:g.139393461A>C	GRCh37
NC_000009.10:g.138513282A>C	NCBI36
NG_007458.1:g.51778T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6083-13T>G MANE Select	ENSP00000498587.1:n.6083-13T>G
ENST00000679595.1:c.*1123-13T>G	ENSP00000506241.1:n.*1123-13T>G
ENST00000679969.1:n.2666T>G
ENST00000680003.1:n.2415-13T>G
ENST00000680133.1:c.5969-13T>G	ENSP00000505319.1:n.5969-13T>G
ENST00000680218.1:c.5963-13T>G	ENSP00000505339.1:n.5963-13T>G
ENST00000680668.1:c.5969-13T>G	ENSP00000506336.1:n.5969-13T>G
ENST00000680778.1:c.3680-13T>G	ENSP00000506033.1:n.3680-13T>G
ENST00000680924.1:c.*3483-13T>G	ENSP00000506031.1:n.*3483-13T>G
ENST00000681135.1:c.*3692-13T>G	ENSP00000506636.1:n.*3692-13T>G
ENST00000681298.1:n.4188-13T>G
ENST00000681454.1:c.*5319-13T>G	ENSP00000505763.1:n.*5319-13T>G
ENST00000277541.6:c.6083-13T>G	ENSP00000277541.6:n.6083-13T>G
NM_017617.3:c.6083-13T>G	NP_060087.3:n.6083-13T>G
XM_011518717.1:c.5384-13T>G	XP_011517019.1:n.5384-13T>G
NM_017617.5:c.6083-13T>G MANE Select	NP_060087.3:n.6083-13T>G
XM_011518717.2:c.5360-13T>G	XP_011517019.2:n.5360-13T>G