Canonical Allele Identifier: CA375633915

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1374171839
• MyVariant Identifiers: chr9:g.139393394A>C (hg19) ; chr9:g.136498942A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136498942A>C , CM000671.2:g.136498942A>C	GRCh38
NC_000009.11:g.139393394A>C , CM000671.1:g.139393394A>C	GRCh37
NC_000009.10:g.138513215A>C	NCBI36
NG_007458.1:g.51845T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6137T>G MANE Select	ENSP00000498587.1:p.Val2046Gly
ENST00000679595.1:c.*1177T>G	ENSP00000506241.1:n.*1177T>G
ENST00000679969.1:n.2733T>G
ENST00000680003.1:n.2469T>G
ENST00000680133.1:c.6023T>G	ENSP00000505319.1:p.Val2008Gly
ENST00000680218.1:c.6017T>G	ENSP00000505339.1:p.Val2006Gly
ENST00000680668.1:c.6023T>G	ENSP00000506336.1:p.Val2008Gly
ENST00000680778.1:c.3734T>G	ENSP00000506033.1:p.Val1245Gly
ENST00000680924.1:c.*3537T>G	ENSP00000506031.1:n.*3537T>G
ENST00000681135.1:c.*3746T>G	ENSP00000506636.1:n.*3746T>G
ENST00000681298.1:n.4242T>G
ENST00000681454.1:c.*5373T>G	ENSP00000505763.1:n.*5373T>G
ENST00000277541.6:c.6137T>G	ENSP00000277541.6:p.Val2046Gly
NM_017617.3:c.6137T>G	NP_060087.3:p.Val2046Gly
XM_011518717.1:c.5438T>G	XP_011517019.1:p.Val1813Gly
NM_017617.5:c.6137T>G MANE Select	NP_060087.3:p.Val2046Gly
XM_011518717.2:c.5414T>G	XP_011517019.2:p.Val1805Gly