Canonical Allele Identifier: CA375644847

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133336622
• MyVariant Identifiers: chr9:g.139399326A>C (hg19) ; chr9:g.136504874A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504874A>C , CM000671.2:g.136504874A>C	GRCh38
NC_000009.11:g.139399326A>C , CM000671.1:g.139399326A>C	GRCh37
NC_000009.10:g.138519147A>C	NCBI36
NG_007458.1:g.45913T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2624T>G
ENST00000651671.1:c.4817T>G MANE Select	ENSP00000498587.1:p.Phe1606Cys
ENST00000679595.1:c.4817T>G	ENSP00000506241.1:p.Phe1606Cys
ENST00000680133.1:c.4703T>G	ENSP00000505319.1:p.Phe1568Cys
ENST00000680218.1:c.4697T>G	ENSP00000505339.1:p.Phe1566Cys
ENST00000680668.1:c.4703T>G	ENSP00000506336.1:p.Phe1568Cys
ENST00000680778.1:c.2414T>G	ENSP00000506033.1:p.Phe805Cys
ENST00000680924.1:c.*2217T>G	ENSP00000506031.1:n.*2217T>G
ENST00000681135.1:c.*2426T>G	ENSP00000506636.1:n.*2426T>G
ENST00000681298.1:n.1630T>G
ENST00000681454.1:c.*4053T>G	ENSP00000505763.1:n.*4053T>G
ENST00000277541.6:c.4817T>G	ENSP00000277541.6:p.Phe1606Cys
NM_017617.3:c.4817T>G	NP_060087.3:p.Phe1606Cys
XM_011518717.1:c.4118T>G	XP_011517019.1:p.Phe1373Cys
NM_017617.5:c.4817T>G MANE Select	NP_060087.3:p.Phe1606Cys
XM_011518717.2:c.4094T>G	XP_011517019.2:p.Phe1365Cys