Canonical Allele Identifier: CA375633888

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1321745669
• MyVariant Identifiers: chr9:g.139393389G>C (hg19) ; chr9:g.136498937G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136498937G>C , CM000671.2:g.136498937G>C	GRCh38
NC_000009.11:g.139393389G>C , CM000671.1:g.139393389G>C	GRCh37
NC_000009.10:g.138513210G>C	NCBI36
NG_007458.1:g.51850C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6142C>G MANE Select	ENSP00000498587.1:p.Leu2048Val
ENST00000679595.1:c.*1182C>G	ENSP00000506241.1:n.*1182C>G
ENST00000679969.1:n.2738C>G
ENST00000680003.1:n.2474C>G
ENST00000680133.1:c.6028C>G	ENSP00000505319.1:p.Leu2010Val
ENST00000680218.1:c.6022C>G	ENSP00000505339.1:p.Leu2008Val
ENST00000680668.1:c.6028C>G	ENSP00000506336.1:p.Leu2010Val
ENST00000680778.1:c.3739C>G	ENSP00000506033.1:p.Leu1247Val
ENST00000680924.1:c.*3542C>G	ENSP00000506031.1:n.*3542C>G
ENST00000681135.1:c.*3751C>G	ENSP00000506636.1:n.*3751C>G
ENST00000681298.1:n.4247C>G
ENST00000681454.1:c.*5378C>G	ENSP00000505763.1:n.*5378C>G
ENST00000277541.6:c.6142C>G	ENSP00000277541.6:p.Leu2048Val
NM_017617.3:c.6142C>G	NP_060087.3:p.Leu2048Val
XM_011518717.1:c.5443C>G	XP_011517019.1:p.Leu1815Val
NM_017617.5:c.6142C>G MANE Select	NP_060087.3:p.Leu2048Val
XM_011518717.2:c.5419C>G	XP_011517019.2:p.Leu1807Val