Canonical Allele Identifier: CA375644915

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133336694
• gnomAD v4: 9-136504888-G-T
• MyVariant Identifiers: chr9:g.139399340G>T (hg19) ; chr9:g.136504888G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504888G>T , CM000671.2:g.136504888G>T	GRCh38
NC_000009.11:g.139399340G>T , CM000671.1:g.139399340G>T	GRCh37
NC_000009.10:g.138519161G>T	NCBI36
NG_007458.1:g.45899C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2610C>A
ENST00000651671.1:c.4803C>A MANE Select	ENSP00000498587.1:p.His1601Gln
ENST00000679595.1:c.4803C>A	ENSP00000506241.1:p.His1601Gln
ENST00000680133.1:c.4689C>A	ENSP00000505319.1:p.His1563Gln
ENST00000680218.1:c.4683C>A	ENSP00000505339.1:p.His1561Gln
ENST00000680668.1:c.4689C>A	ENSP00000506336.1:p.His1563Gln
ENST00000680778.1:c.2400C>A	ENSP00000506033.1:p.His800Gln
ENST00000680924.1:c.*2203C>A	ENSP00000506031.1:n.*2203C>A
ENST00000681135.1:c.*2412C>A	ENSP00000506636.1:n.*2412C>A
ENST00000681298.1:n.1616C>A
ENST00000681454.1:c.*4039C>A	ENSP00000505763.1:n.*4039C>A
ENST00000277541.6:c.4803C>A	ENSP00000277541.6:p.His1601Gln
NM_017617.3:c.4803C>A	NP_060087.3:p.His1601Gln
XM_011518717.1:c.4104C>A	XP_011517019.1:p.His1368Gln
NM_017617.5:c.4803C>A MANE Select	NP_060087.3:p.His1601Gln
XM_011518717.2:c.4080C>A	XP_011517019.2:p.His1360Gln