Canonical Allele Identifier: CA375644040

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1843049242
• MyVariant Identifiers: chr9:g.139399143T>G (hg19) ; chr9:g.136504691T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504691T>G , CM000671.2:g.136504691T>G	GRCh38
NC_000009.11:g.139399143T>G , CM000671.1:g.139399143T>G	GRCh37
NC_000009.10:g.138518964T>G	NCBI36
NG_007458.1:g.46096A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2807A>C
ENST00000651671.1:c.5000A>C MANE Select	ENSP00000498587.1:p.Asp1667Ala
ENST00000679595.1:c.5000A>C	ENSP00000506241.1:p.Asp1667Ala
ENST00000680133.1:c.4886A>C	ENSP00000505319.1:p.Asp1629Ala
ENST00000680218.1:c.4880A>C	ENSP00000505339.1:p.Asp1627Ala
ENST00000680668.1:c.4886A>C	ENSP00000506336.1:p.Asp1629Ala
ENST00000680778.1:c.2597A>C	ENSP00000506033.1:p.Asp866Ala
ENST00000680924.1:c.*2400A>C	ENSP00000506031.1:n.*2400A>C
ENST00000681135.1:c.*2609A>C	ENSP00000506636.1:n.*2609A>C
ENST00000681298.1:n.1813A>C
ENST00000681454.1:c.*4236A>C	ENSP00000505763.1:n.*4236A>C
ENST00000277541.6:c.5000A>C	ENSP00000277541.6:p.Asp1667Ala
ENST00000494783.1:n.155A>C
NM_017617.3:c.5000A>C	NP_060087.3:p.Asp1667Ala
XM_011518717.1:c.4301A>C	XP_011517019.1:p.Asp1434Ala
NM_017617.5:c.5000A>C MANE Select	NP_060087.3:p.Asp1667Ala
XM_011518717.2:c.4277A>C	XP_011517019.2:p.Asp1426Ala