Canonical Allele Identifier: CA363557055
Gene: NOTCH4 HGNC NCBI

Linked Data

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

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000375023.3:c.1092T>G MANE Select ENSP00000364163.3:p.Cys364Trp
ENST00000473562.1:n.1221T>G
NM_004557.3:c.1092T>G NP_004548.3:p.Cys364Trp
NR_134949.1:n.1231T>G
NR_134950.1:n.1231T>G
NM_004557.4:c.1092T>G MANE Select NP_004548.3:p.Cys364Trp
NR_134949.2:n.1231T>G
NR_134950.2:n.1231T>G
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