Canonical Allele Identifier: CA375644491

Gene: NOTCH1

Linked Data

• gnomAD v4: 9-136504800-T-A
• MyVariant Identifiers: chr9:g.139399252T>A (hg19) ; chr9:g.136504800T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504800T>A , CM000671.2:g.136504800T>A	GRCh38
NC_000009.11:g.139399252T>A , CM000671.1:g.139399252T>A	GRCh37
NC_000009.10:g.138519073T>A	NCBI36
NG_007458.1:g.45987A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2698A>T
ENST00000651671.1:c.4891A>T MANE Select	ENSP00000498587.1:p.Ile1631Phe
ENST00000679595.1:c.4891A>T	ENSP00000506241.1:p.Ile1631Phe
ENST00000680133.1:c.4777A>T	ENSP00000505319.1:p.Ile1593Phe
ENST00000680218.1:c.4771A>T	ENSP00000505339.1:p.Ile1591Phe
ENST00000680668.1:c.4777A>T	ENSP00000506336.1:p.Ile1593Phe
ENST00000680778.1:c.2488A>T	ENSP00000506033.1:p.Ile830Phe
ENST00000680924.1:c.*2291A>T	ENSP00000506031.1:n.*2291A>T
ENST00000681135.1:c.*2500A>T	ENSP00000506636.1:n.*2500A>T
ENST00000681298.1:n.1704A>T
ENST00000681454.1:c.*4127A>T	ENSP00000505763.1:n.*4127A>T
ENST00000277541.6:c.4891A>T	ENSP00000277541.6:p.Ile1631Phe
ENST00000494783.1:n.46A>T
NM_017617.3:c.4891A>T	NP_060087.3:p.Ile1631Phe
XM_011518717.1:c.4192A>T	XP_011517019.1:p.Ile1398Phe
NM_017617.5:c.4891A>T MANE Select	NP_060087.3:p.Ile1631Phe
XM_011518717.2:c.4168A>T	XP_011517019.2:p.Ile1390Phe