Canonical Allele Identifier: CA2678131575
Gene: NOTCH4 HGNC NCBI

Linked Data

gnomAD v4: 6-32222692-G-GA
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32222693dup , CM000668.2:g.32222693dup GRCh38
NC_000006.11:g.32190470dup , CM000668.1:g.32190470dup GRCh37
NC_000006.10:g.32298448dup NCBI36
NG_028190.1:g.6375dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000375023.3:c.269dup MANE Select ENSP00000364163.3:p.Ser92GlnfsTer21
ENST00000473562.1:n.398dup
NM_004557.3:c.269dup NP_004548.3:p.Ser92GlnfsTer21
NR_134949.1:n.408dup
NR_134950.1:n.408dup
NM_004557.4:c.269dup MANE Select NP_004548.3:p.Ser92GlnfsTer21
NR_134949.2:n.408dup
NR_134950.2:n.408dup
Search 100 bp 5'
Search 100 bp 3'