Canonical Allele Identifier: CA375644600

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1843052920
• gnomAD v4: 9-136504821-C-T
• MyVariant Identifiers: chr9:g.139399273C>T (hg19) ; chr9:g.136504821C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504821C>T , CM000671.2:g.136504821C>T	GRCh38
NC_000009.11:g.139399273C>T , CM000671.1:g.139399273C>T	GRCh37
NC_000009.10:g.138519094C>T	NCBI36
NG_007458.1:g.45966G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2677G>A
ENST00000651671.1:c.4870G>A MANE Select	ENSP00000498587.1:p.Glu1624Lys
ENST00000679595.1:c.4870G>A	ENSP00000506241.1:p.Glu1624Lys
ENST00000680133.1:c.4756G>A	ENSP00000505319.1:p.Glu1586Lys
ENST00000680218.1:c.4750G>A	ENSP00000505339.1:p.Glu1584Lys
ENST00000680668.1:c.4756G>A	ENSP00000506336.1:p.Glu1586Lys
ENST00000680778.1:c.2467G>A	ENSP00000506033.1:p.Glu823Lys
ENST00000680924.1:c.*2270G>A	ENSP00000506031.1:n.*2270G>A
ENST00000681135.1:c.*2479G>A	ENSP00000506636.1:n.*2479G>A
ENST00000681298.1:n.1683G>A
ENST00000681454.1:c.*4106G>A	ENSP00000505763.1:n.*4106G>A
ENST00000277541.6:c.4870G>A	ENSP00000277541.6:p.Glu1624Lys
ENST00000494783.1:n.25G>A
NM_017617.3:c.4870G>A	NP_060087.3:p.Glu1624Lys
XM_011518717.1:c.4171G>A	XP_011517019.1:p.Glu1391Lys
NM_017617.5:c.4870G>A MANE Select	NP_060087.3:p.Glu1624Lys
XM_011518717.2:c.4147G>A	XP_011517019.2:p.Glu1383Lys