Canonical Allele Identifier: CA363557104
Gene: NOTCH4 HGNC NCBI

Linked Data

dbSNP Id: rs2127487360
COSMIC: COSM3625403
MyVariant Identifiers: chr6:g.32188271T>G (hg19) chr6:g.32220494T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32220494T>G , CM000668.2:g.32220494T>G GRCh38
NC_000006.11:g.32188271T>G , CM000668.1:g.32188271T>G GRCh37
NC_000006.10:g.32296249T>G NCBI36
NG_028190.1:g.8574A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375023.3:c.1070A>C MANE Select ENSP00000364163.3:p.Asp357Ala
ENST00000473562.1:n.1199A>C
NM_004557.3:c.1070A>C NP_004548.3:p.Asp357Ala
NR_134949.1:n.1209A>C
NR_134950.1:n.1209A>C
NM_004557.4:c.1070A>C MANE Select NP_004548.3:p.Asp357Ala
NR_134949.2:n.1209A>C
NR_134950.2:n.1209A>C
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