Canonical Allele Identifier: CA363557056
Gene: NOTCH4 HGNC NCBI

Linked Data

dbSNP Id: rs2127487244
MyVariant Identifiers: chr6:g.32188249A>T (hg19) chr6:g.32220472A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32220472A>T , CM000668.2:g.32220472A>T GRCh38
NC_000006.11:g.32188249A>T , CM000668.1:g.32188249A>T GRCh37
NC_000006.10:g.32296227A>T NCBI36
NG_028190.1:g.8596T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375023.3:c.1092T>A MANE Select ENSP00000364163.3:p.Cys364Ter
ENST00000473562.1:n.1221T>A
NM_004557.3:c.1092T>A NP_004548.3:p.Cys364Ter
NR_134949.1:n.1231T>A
NR_134950.1:n.1231T>A
NM_004557.4:c.1092T>A MANE Select NP_004548.3:p.Cys364Ter
NR_134949.2:n.1231T>A
NR_134950.2:n.1231T>A
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