Canonical Allele Identifier: CA375644230

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133335894
• MyVariant Identifiers: chr9:g.139399185A>C (hg19) ; chr9:g.136504733A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504733A>C , CM000671.2:g.136504733A>C	GRCh38
NC_000009.11:g.139399185A>C , CM000671.1:g.139399185A>C	GRCh37
NC_000009.10:g.138519006A>C	NCBI36
NG_007458.1:g.46054T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2765T>G
ENST00000651671.1:c.4958T>G MANE Select	ENSP00000498587.1:p.Leu1653Arg
ENST00000679595.1:c.4958T>G	ENSP00000506241.1:p.Leu1653Arg
ENST00000680133.1:c.4844T>G	ENSP00000505319.1:p.Leu1615Arg
ENST00000680218.1:c.4838T>G	ENSP00000505339.1:p.Leu1613Arg
ENST00000680668.1:c.4844T>G	ENSP00000506336.1:p.Leu1615Arg
ENST00000680778.1:c.2555T>G	ENSP00000506033.1:p.Leu852Arg
ENST00000680924.1:c.*2358T>G	ENSP00000506031.1:n.*2358T>G
ENST00000681135.1:c.*2567T>G	ENSP00000506636.1:n.*2567T>G
ENST00000681298.1:n.1771T>G
ENST00000681454.1:c.*4194T>G	ENSP00000505763.1:n.*4194T>G
ENST00000277541.6:c.4958T>G	ENSP00000277541.6:p.Leu1653Arg
ENST00000494783.1:n.113T>G
NM_017617.3:c.4958T>G	NP_060087.3:p.Leu1653Arg
XM_011518717.1:c.4259T>G	XP_011517019.1:p.Leu1420Arg
NM_017617.5:c.4958T>G MANE Select	NP_060087.3:p.Leu1653Arg
XM_011518717.2:c.4235T>G	XP_011517019.2:p.Leu1412Arg