Canonical Allele Identifier: CA375644570

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133336298
• gnomAD v4: 9-136504816-C-A
• MyVariant Identifiers: chr9:g.139399268C>A (hg19) ; chr9:g.136504816C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504816C>A , CM000671.2:g.136504816C>A	GRCh38
NC_000009.11:g.139399268C>A , CM000671.1:g.139399268C>A	GRCh37
NC_000009.10:g.138519089C>A	NCBI36
NG_007458.1:g.45971G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2682G>T
ENST00000651671.1:c.4875G>T MANE Select	ENSP00000498587.1:p.Glu1625Asp
ENST00000679595.1:c.4875G>T	ENSP00000506241.1:p.Glu1625Asp
ENST00000680133.1:c.4761G>T	ENSP00000505319.1:p.Glu1587Asp
ENST00000680218.1:c.4755G>T	ENSP00000505339.1:p.Glu1585Asp
ENST00000680668.1:c.4761G>T	ENSP00000506336.1:p.Glu1587Asp
ENST00000680778.1:c.2472G>T	ENSP00000506033.1:p.Glu824Asp
ENST00000680924.1:c.*2275G>T	ENSP00000506031.1:n.*2275G>T
ENST00000681135.1:c.*2484G>T	ENSP00000506636.1:n.*2484G>T
ENST00000681298.1:n.1688G>T
ENST00000681454.1:c.*4111G>T	ENSP00000505763.1:n.*4111G>T
ENST00000277541.6:c.4875G>T	ENSP00000277541.6:p.Glu1625Asp
ENST00000494783.1:n.30G>T
NM_017617.3:c.4875G>T	NP_060087.3:p.Glu1625Asp
XM_011518717.1:c.4176G>T	XP_011517019.1:p.Glu1392Asp
NM_017617.5:c.4875G>T MANE Select	NP_060087.3:p.Glu1625Asp
XM_011518717.2:c.4152G>T	XP_011517019.2:p.Glu1384Asp