Canonical Allele Identifier: CA375644975

Gene: NOTCH1

Linked Data

• gnomAD v4: 9-136504899-G-T
• MyVariant Identifiers: chr9:g.139399351G>T (hg19) ; chr9:g.136504899G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504899G>T , CM000671.2:g.136504899G>T	GRCh38
NC_000009.11:g.139399351G>T , CM000671.1:g.139399351G>T	GRCh37
NC_000009.10:g.138519172G>T	NCBI36
NG_007458.1:g.45888C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2599C>A
ENST00000651671.1:c.4792C>A MANE Select	ENSP00000498587.1:p.Arg1598Ser
ENST00000679595.1:c.4792C>A	ENSP00000506241.1:p.Arg1598Ser
ENST00000680133.1:c.4678C>A	ENSP00000505319.1:p.Arg1560Ser
ENST00000680218.1:c.4672C>A	ENSP00000505339.1:p.Arg1558Ser
ENST00000680668.1:c.4678C>A	ENSP00000506336.1:p.Arg1560Ser
ENST00000680778.1:c.2389C>A	ENSP00000506033.1:p.Arg797Ser
ENST00000680924.1:c.*2192C>A	ENSP00000506031.1:n.*2192C>A
ENST00000681135.1:c.*2401C>A	ENSP00000506636.1:n.*2401C>A
ENST00000681298.1:n.1605C>A
ENST00000681454.1:c.*4028C>A	ENSP00000505763.1:n.*4028C>A
ENST00000277541.6:c.4792C>A	ENSP00000277541.6:p.Arg1598Ser
NM_017617.3:c.4792C>A	NP_060087.3:p.Arg1598Ser
XM_011518717.1:c.4093C>A	XP_011517019.1:p.Arg1365Ser
NM_017617.5:c.4792C>A MANE Select	NP_060087.3:p.Arg1598Ser
XM_011518717.2:c.4069C>A	XP_011517019.2:p.Arg1357Ser