Canonical Allele Identifier: CA375633895

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133321637
• MyVariant Identifiers: chr9:g.139393391A>G (hg19) ; chr9:g.136498939A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136498939A>G , CM000671.2:g.136498939A>G	GRCh38
NC_000009.11:g.139393391A>G , CM000671.1:g.139393391A>G	GRCh37
NC_000009.10:g.138513212A>G	NCBI36
NG_007458.1:g.51848T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6140T>C MANE Select	ENSP00000498587.1:p.Leu2047Pro
ENST00000679595.1:c.*1180T>C	ENSP00000506241.1:n.*1180T>C
ENST00000679969.1:n.2736T>C
ENST00000680003.1:n.2472T>C
ENST00000680133.1:c.6026T>C	ENSP00000505319.1:p.Leu2009Pro
ENST00000680218.1:c.6020T>C	ENSP00000505339.1:p.Leu2007Pro
ENST00000680668.1:c.6026T>C	ENSP00000506336.1:p.Leu2009Pro
ENST00000680778.1:c.3737T>C	ENSP00000506033.1:p.Leu1246Pro
ENST00000680924.1:c.*3540T>C	ENSP00000506031.1:n.*3540T>C
ENST00000681135.1:c.*3749T>C	ENSP00000506636.1:n.*3749T>C
ENST00000681298.1:n.4245T>C
ENST00000681454.1:c.*5376T>C	ENSP00000505763.1:n.*5376T>C
ENST00000277541.6:c.6140T>C	ENSP00000277541.6:p.Leu2047Pro
NM_017617.3:c.6140T>C	NP_060087.3:p.Leu2047Pro
XM_011518717.1:c.5441T>C	XP_011517019.1:p.Leu1814Pro
NM_017617.5:c.6140T>C MANE Select	NP_060087.3:p.Leu2047Pro
XM_011518717.2:c.5417T>C	XP_011517019.2:p.Leu1806Pro