Canonical Allele Identifier: CA375644174

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1217360911
• gnomAD v4: 9-136504719-C-T
• MyVariant Identifiers: chr9:g.139399171C>T (hg19) ; chr9:g.136504719C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504719C>T , CM000671.2:g.136504719C>T	GRCh38
NC_000009.11:g.139399171C>T , CM000671.1:g.139399171C>T	GRCh37
NC_000009.10:g.138518992C>T	NCBI36
NG_007458.1:g.46068G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2779G>A
ENST00000651671.1:c.4972G>A MANE Select	ENSP00000498587.1:p.Glu1658Lys
ENST00000679595.1:c.4972G>A	ENSP00000506241.1:p.Glu1658Lys
ENST00000680133.1:c.4858G>A	ENSP00000505319.1:p.Glu1620Lys
ENST00000680218.1:c.4852G>A	ENSP00000505339.1:p.Glu1618Lys
ENST00000680668.1:c.4858G>A	ENSP00000506336.1:p.Glu1620Lys
ENST00000680778.1:c.2569G>A	ENSP00000506033.1:p.Glu857Lys
ENST00000680924.1:c.*2372G>A	ENSP00000506031.1:n.*2372G>A
ENST00000681135.1:c.*2581G>A	ENSP00000506636.1:n.*2581G>A
ENST00000681298.1:n.1785G>A
ENST00000681454.1:c.*4208G>A	ENSP00000505763.1:n.*4208G>A
ENST00000277541.6:c.4972G>A	ENSP00000277541.6:p.Glu1658Lys
ENST00000494783.1:n.127G>A
NM_017617.3:c.4972G>A	NP_060087.3:p.Glu1658Lys
XM_011518717.1:c.4273G>A	XP_011517019.1:p.Glu1425Lys
NM_017617.5:c.4972G>A MANE Select	NP_060087.3:p.Glu1658Lys
XM_011518717.2:c.4249G>A	XP_011517019.2:p.Glu1417Lys