Canonical Allele Identifier: CA375633871

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139393386T>G (hg19) ; chr9:g.136498934T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136498934T>G , CM000671.2:g.136498934T>G	GRCh38
NC_000009.11:g.139393386T>G , CM000671.1:g.139393386T>G	GRCh37
NC_000009.10:g.138513207T>G	NCBI36
NG_007458.1:g.51853A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6145A>C MANE Select	ENSP00000498587.1:p.Lys2049Gln
ENST00000679595.1:c.*1185A>C	ENSP00000506241.1:n.*1185A>C
ENST00000679969.1:n.2741A>C
ENST00000680003.1:n.2477A>C
ENST00000680133.1:c.6031A>C	ENSP00000505319.1:p.Lys2011Gln
ENST00000680218.1:c.6025A>C	ENSP00000505339.1:p.Lys2009Gln
ENST00000680668.1:c.6031A>C	ENSP00000506336.1:p.Lys2011Gln
ENST00000680778.1:c.3742A>C	ENSP00000506033.1:p.Lys1248Gln
ENST00000680924.1:c.*3545A>C	ENSP00000506031.1:n.*3545A>C
ENST00000681135.1:c.*3754A>C	ENSP00000506636.1:n.*3754A>C
ENST00000681298.1:n.4250A>C
ENST00000681454.1:c.*5381A>C	ENSP00000505763.1:n.*5381A>C
ENST00000277541.6:c.6145A>C	ENSP00000277541.6:p.Lys2049Gln
NM_017617.3:c.6145A>C	NP_060087.3:p.Lys2049Gln
XM_011518717.1:c.5446A>C	XP_011517019.1:p.Lys1816Gln
NM_017617.5:c.6145A>C MANE Select	NP_060087.3:p.Lys2049Gln
XM_011518717.2:c.5422A>C	XP_011517019.2:p.Lys1808Gln