Canonical Allele Identifier: CA375644379

Gene: NOTCH1

Linked Data

• gnomAD v4: 9-136504775-G-A
• MyVariant Identifiers: chr9:g.139399227G>A (hg19) ; chr9:g.136504775G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504775G>A , CM000671.2:g.136504775G>A	GRCh38
NC_000009.11:g.139399227G>A , CM000671.1:g.139399227G>A	GRCh37
NC_000009.10:g.138519048G>A	NCBI36
NG_007458.1:g.46012C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2723C>T
ENST00000651671.1:c.4916C>T MANE Select	ENSP00000498587.1:p.Ala1639Val
ENST00000679595.1:c.4916C>T	ENSP00000506241.1:p.Ala1639Val
ENST00000680133.1:c.4802C>T	ENSP00000505319.1:p.Ala1601Val
ENST00000680218.1:c.4796C>T	ENSP00000505339.1:p.Ala1599Val
ENST00000680668.1:c.4802C>T	ENSP00000506336.1:p.Ala1601Val
ENST00000680778.1:c.2513C>T	ENSP00000506033.1:p.Ala838Val
ENST00000680924.1:c.*2316C>T	ENSP00000506031.1:n.*2316C>T
ENST00000681135.1:c.*2525C>T	ENSP00000506636.1:n.*2525C>T
ENST00000681298.1:n.1729C>T
ENST00000681454.1:c.*4152C>T	ENSP00000505763.1:n.*4152C>T
ENST00000277541.6:c.4916C>T	ENSP00000277541.6:p.Ala1639Val
ENST00000494783.1:n.71C>T
NM_017617.3:c.4916C>T	NP_060087.3:p.Ala1639Val
XM_011518717.1:c.4217C>T	XP_011517019.1:p.Ala1406Val
NM_017617.5:c.4916C>T MANE Select	NP_060087.3:p.Ala1639Val
XM_011518717.2:c.4193C>T	XP_011517019.2:p.Ala1398Val