Canonical Allele Identifier: CA566375899
Gene: NOTCH4 HGNC NCBI

Linked Data

dbSNP Id: rs1320368815
gnomAD v2: 6-32190359-CAGA-C
gnomAD v4: 6-32222582-CAGA-C
MyVariant Identifiers: chr6:g.32190360_32190362del (hg19) chr6:g.32222583_32222585del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32222585_32222587del , CM000668.2:g.32222585_32222587del GRCh38
NC_000006.11:g.32190362_32190364del , CM000668.1:g.32190362_32190364del GRCh37
NC_000006.10:g.32298340_32298342del NCBI36
NG_028190.1:g.6483_6485del

Transcript Alleles

HGVS Amino-acid Change
ENST00000375023.3:c.377_379del MANE Select ENSP00000364163.3:p.Phe126del
ENST00000473562.1:n.506_508del
NM_004557.3:c.377_379del NP_004548.3:p.Phe126del
NR_134949.1:n.516_518del
NR_134950.1:n.516_518del
NM_004557.4:c.377_379del MANE Select NP_004548.3:p.Phe126del
NR_134949.2:n.516_518del
NR_134950.2:n.516_518del
Search 100 bp 5'
Search 100 bp 3'