Canonical Allele Identifier: CA375631870

Gene: NOTCH1

Linked Data

• gnomAD v4: 9-136497359-G-T
• MyVariant Identifiers: chr9:g.139391811G>T (hg19) ; chr9:g.136497359G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497359G>T , CM000671.2:g.136497359G>T	GRCh38
NC_000009.11:g.139391811G>T , CM000671.1:g.139391811G>T	GRCh37
NC_000009.10:g.138511632G>T	NCBI36
NG_007458.1:g.53428C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6380C>A MANE Select	ENSP00000498587.1:p.Ala2127Asp
ENST00000679595.1:c.*1420C>A	ENSP00000506241.1:n.*1420C>A
ENST00000679969.1:n.2976C>A
ENST00000680003.1:n.2712C>A
ENST00000680133.1:c.6266C>A	ENSP00000505319.1:p.Ala2089Asp
ENST00000680218.1:c.6260C>A	ENSP00000505339.1:p.Ala2087Asp
ENST00000680668.1:c.6266C>A	ENSP00000506336.1:p.Ala2089Asp
ENST00000680778.1:c.3977C>A	ENSP00000506033.1:p.Ala1326Asp
ENST00000680924.1:c.*3780C>A	ENSP00000506031.1:n.*3780C>A
ENST00000681135.1:c.*3989C>A	ENSP00000506636.1:n.*3989C>A
ENST00000681298.1:n.4485C>A
ENST00000681454.1:c.*5616C>A	ENSP00000505763.1:n.*5616C>A
ENST00000277541.6:c.6380C>A	ENSP00000277541.6:p.Ala2127Asp
NM_017617.3:c.6380C>A	NP_060087.3:p.Ala2127Asp
XM_011518717.1:c.5681C>A	XP_011517019.1:p.Ala1894Asp
NM_017617.5:c.6380C>A MANE Select	NP_060087.3:p.Ala2127Asp
XM_011518717.2:c.5657C>A	XP_011517019.2:p.Ala1886Asp