Canonical Allele Identifier: CA375644083

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139399149T>G (hg19) ; chr9:g.136504697T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504697T>G , CM000671.2:g.136504697T>G	GRCh38
NC_000009.11:g.139399149T>G , CM000671.1:g.139399149T>G	GRCh37
NC_000009.10:g.138518970T>G	NCBI36
NG_007458.1:g.46090A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2801A>C
ENST00000651671.1:c.4994A>C MANE Select	ENSP00000498587.1:p.Glu1665Ala
ENST00000679595.1:c.4994A>C	ENSP00000506241.1:p.Glu1665Ala
ENST00000680133.1:c.4880A>C	ENSP00000505319.1:p.Glu1627Ala
ENST00000680218.1:c.4874A>C	ENSP00000505339.1:p.Glu1625Ala
ENST00000680668.1:c.4880A>C	ENSP00000506336.1:p.Glu1627Ala
ENST00000680778.1:c.2591A>C	ENSP00000506033.1:p.Glu864Ala
ENST00000680924.1:c.*2394A>C	ENSP00000506031.1:n.*2394A>C
ENST00000681135.1:c.*2603A>C	ENSP00000506636.1:n.*2603A>C
ENST00000681298.1:n.1807A>C
ENST00000681454.1:c.*4230A>C	ENSP00000505763.1:n.*4230A>C
ENST00000277541.6:c.4994A>C	ENSP00000277541.6:p.Glu1665Ala
ENST00000494783.1:n.149A>C
NM_017617.3:c.4994A>C	NP_060087.3:p.Glu1665Ala
XM_011518717.1:c.4295A>C	XP_011517019.1:p.Glu1432Ala
NM_017617.5:c.4994A>C MANE Select	NP_060087.3:p.Glu1665Ala
XM_011518717.2:c.4271A>C	XP_011517019.2:p.Glu1424Ala