Canonical Allele Identifier: CA375563110

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1165088974
• gnomAD v2: 9-139412294-T-A
• gnomAD v4: 9-136517842-T-A
• MyVariant Identifiers: chr9:g.139412294T>A (hg19) ; chr9:g.136517842T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136517842T>A , CM000671.2:g.136517842T>A	GRCh38
NC_000009.11:g.139412294T>A , CM000671.1:g.139412294T>A	GRCh37
NC_000009.10:g.138532115T>A	NCBI36
NG_007458.1:g.32945A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.1351A>T MANE Select	ENSP00000498587.1:p.Ile451Phe
ENST00000679595.1:c.1351A>T	ENSP00000506241.1:p.Ile451Phe
ENST00000680133.1:c.1351A>T	ENSP00000505319.1:p.Ile451Phe
ENST00000680218.1:c.1351A>T	ENSP00000505339.1:p.Ile451Phe
ENST00000680668.1:c.1351A>T	ENSP00000506336.1:p.Ile451Phe
ENST00000680924.1:c.1351A>T	ENSP00000506031.1:p.Ile451Phe
ENST00000681135.1:c.1351A>T	ENSP00000506636.1:p.Ile451Phe
ENST00000681454.1:c.*587A>T	ENSP00000505763.1:n.*587A>T
ENST00000277541.6:c.1351A>T	ENSP00000277541.6:p.Ile451Phe
NM_017617.3:c.1351A>T	NP_060087.3:p.Ile451Phe
XM_011518717.1:c.652A>T	XP_011517019.1:p.Ile218Phe
NM_017617.5:c.1351A>T MANE Select	NP_060087.3:p.Ile451Phe
XM_011518717.2:c.628A>T	XP_011517019.2:p.Ile210Phe