Canonical Allele Identifier: CA375644978

Gene: NOTCH1

Linked Data

• gnomAD v4: 9-136504900-G-T
• MyVariant Identifiers: chr9:g.139399352G>T (hg19) ; chr9:g.136504900G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504900G>T , CM000671.2:g.136504900G>T	GRCh38
NC_000009.11:g.139399352G>T , CM000671.1:g.139399352G>T	GRCh37
NC_000009.10:g.138519173G>T	NCBI36
NG_007458.1:g.45887C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2598C>A
ENST00000651671.1:c.4791C>A MANE Select	ENSP00000498587.1:p.Ser1597Arg
ENST00000679595.1:c.4791C>A	ENSP00000506241.1:p.Ser1597Arg
ENST00000680133.1:c.4677C>A	ENSP00000505319.1:p.Ser1559Arg
ENST00000680218.1:c.4671C>A	ENSP00000505339.1:p.Ser1557Arg
ENST00000680668.1:c.4677C>A	ENSP00000506336.1:p.Ser1559Arg
ENST00000680778.1:c.2388C>A	ENSP00000506033.1:p.Ser796Arg
ENST00000680924.1:c.*2191C>A	ENSP00000506031.1:n.*2191C>A
ENST00000681135.1:c.*2400C>A	ENSP00000506636.1:n.*2400C>A
ENST00000681298.1:n.1604C>A
ENST00000681454.1:c.*4027C>A	ENSP00000505763.1:n.*4027C>A
ENST00000277541.6:c.4791C>A	ENSP00000277541.6:p.Ser1597Arg
NM_017617.3:c.4791C>A	NP_060087.3:p.Ser1597Arg
XM_011518717.1:c.4092C>A	XP_011517019.1:p.Ser1364Arg
NM_017617.5:c.4791C>A MANE Select	NP_060087.3:p.Ser1597Arg
XM_011518717.2:c.4068C>A	XP_011517019.2:p.Ser1356Arg