Canonical Allele Identifier: CA363557199
Gene: NOTCH4 HGNC NCBI

Linked Data

dbSNP Id: rs2127487563
gnomAD v4: 6-32220539-A-T
MyVariant Identifiers: chr6:g.32188316A>T (hg19) chr6:g.32220539A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32220539A>T , CM000668.2:g.32220539A>T GRCh38
NC_000006.11:g.32188316A>T , CM000668.1:g.32188316A>T GRCh37
NC_000006.10:g.32296294A>T NCBI36
NG_028190.1:g.8529T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375023.3:c.1025T>A MANE Select ENSP00000364163.3:p.Val342Glu
ENST00000473562.1:n.1154T>A
NM_004557.3:c.1025T>A NP_004548.3:p.Val342Glu
NR_134949.1:n.1164T>A
NR_134950.1:n.1164T>A
NM_004557.4:c.1025T>A MANE Select NP_004548.3:p.Val342Glu
NR_134949.2:n.1164T>A
NR_134950.2:n.1164T>A
Search 100 bp 5'
Search 100 bp 3'