Canonical Allele Identifier: CA375645041

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1272655885
• COSMIC: COSM3685545 ; COSM3685546
• MyVariant Identifiers: chr9:g.139399366G>T (hg19) ; chr9:g.136504914G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504914G>T , CM000671.2:g.136504914G>T	GRCh38
NC_000009.11:g.139399366G>T , CM000671.1:g.139399366G>T	GRCh37
NC_000009.10:g.138519187G>T	NCBI36
NG_007458.1:g.45873C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2584C>A
ENST00000651671.1:c.4777C>A MANE Select	ENSP00000498587.1:p.Leu1593Met
ENST00000679595.1:c.4777C>A	ENSP00000506241.1:p.Leu1593Met
ENST00000680133.1:c.4663C>A	ENSP00000505319.1:p.Leu1555Met
ENST00000680218.1:c.4657C>A	ENSP00000505339.1:p.Leu1553Met
ENST00000680668.1:c.4663C>A	ENSP00000506336.1:p.Leu1555Met
ENST00000680778.1:c.2374C>A	ENSP00000506033.1:p.Leu792Met
ENST00000680924.1:c.*2177C>A	ENSP00000506031.1:n.*2177C>A
ENST00000681135.1:c.*2386C>A	ENSP00000506636.1:n.*2386C>A
ENST00000681298.1:n.1590C>A
ENST00000681454.1:c.*4013C>A	ENSP00000505763.1:n.*4013C>A
ENST00000277541.6:c.4777C>A	ENSP00000277541.6:p.Leu1593Met
NM_017617.3:c.4777C>A	NP_060087.3:p.Leu1593Met
XM_011518717.1:c.4078C>A	XP_011517019.1:p.Leu1360Met
NM_017617.5:c.4777C>A MANE Select	NP_060087.3:p.Leu1593Met
XM_011518717.2:c.4054C>A	XP_011517019.2:p.Leu1352Met