Canonical Allele Identifier: CA375645024

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133336816
• MyVariant Identifiers: chr9:g.139399360C>G (hg19) ; chr9:g.136504908C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504908C>G , CM000671.2:g.136504908C>G	GRCh38
NC_000009.11:g.139399360C>G , CM000671.1:g.139399360C>G	GRCh37
NC_000009.10:g.138519181C>G	NCBI36
NG_007458.1:g.45879G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2590G>C
ENST00000651671.1:c.4783G>C MANE Select	ENSP00000498587.1:p.Glu1595Gln
ENST00000679595.1:c.4783G>C	ENSP00000506241.1:p.Glu1595Gln
ENST00000680133.1:c.4669G>C	ENSP00000505319.1:p.Glu1557Gln
ENST00000680218.1:c.4663G>C	ENSP00000505339.1:p.Glu1555Gln
ENST00000680668.1:c.4669G>C	ENSP00000506336.1:p.Glu1557Gln
ENST00000680778.1:c.2380G>C	ENSP00000506033.1:p.Glu794Gln
ENST00000680924.1:c.*2183G>C	ENSP00000506031.1:n.*2183G>C
ENST00000681135.1:c.*2392G>C	ENSP00000506636.1:n.*2392G>C
ENST00000681298.1:n.1596G>C
ENST00000681454.1:c.*4019G>C	ENSP00000505763.1:n.*4019G>C
ENST00000277541.6:c.4783G>C	ENSP00000277541.6:p.Glu1595Gln
NM_017617.3:c.4783G>C	NP_060087.3:p.Glu1595Gln
XM_011518717.1:c.4084G>C	XP_011517019.1:p.Glu1362Gln
NM_017617.5:c.4783G>C MANE Select	NP_060087.3:p.Glu1595Gln
XM_011518717.2:c.4060G>C	XP_011517019.2:p.Glu1354Gln