Canonical Allele Identifier: CA375644566

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1385740137
• MyVariant Identifiers: chr9:g.139399267G>C (hg19) ; chr9:g.136504815G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504815G>C , CM000671.2:g.136504815G>C	GRCh38
NC_000009.11:g.139399267G>C , CM000671.1:g.139399267G>C	GRCh37
NC_000009.10:g.138519088G>C	NCBI36
NG_007458.1:g.45972C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2683C>G
ENST00000651671.1:c.4876C>G MANE Select	ENSP00000498587.1:p.Leu1626Val
ENST00000679595.1:c.4876C>G	ENSP00000506241.1:p.Leu1626Val
ENST00000680133.1:c.4762C>G	ENSP00000505319.1:p.Leu1588Val
ENST00000680218.1:c.4756C>G	ENSP00000505339.1:p.Leu1586Val
ENST00000680668.1:c.4762C>G	ENSP00000506336.1:p.Leu1588Val
ENST00000680778.1:c.2473C>G	ENSP00000506033.1:p.Leu825Val
ENST00000680924.1:c.*2276C>G	ENSP00000506031.1:n.*2276C>G
ENST00000681135.1:c.*2485C>G	ENSP00000506636.1:n.*2485C>G
ENST00000681298.1:n.1689C>G
ENST00000681454.1:c.*4112C>G	ENSP00000505763.1:n.*4112C>G
ENST00000277541.6:c.4876C>G	ENSP00000277541.6:p.Leu1626Val
ENST00000494783.1:n.31C>G
NM_017617.3:c.4876C>G	NP_060087.3:p.Leu1626Val
XM_011518717.1:c.4177C>G	XP_011517019.1:p.Leu1393Val
NM_017617.5:c.4876C>G MANE Select	NP_060087.3:p.Leu1626Val
XM_011518717.2:c.4153C>G	XP_011517019.2:p.Leu1385Val