Canonical Allele Identifier: CA363557206
Gene: NOTCH4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2331429
ClinVar RCV Id: RCV004176945
dbSNP Id: rs1789691228
MyVariant Identifiers: chr6:g.32188319C>T (hg19) chr6:g.32220542C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32220542C>T , CM000668.2:g.32220542C>T GRCh38
NC_000006.11:g.32188319C>T , CM000668.1:g.32188319C>T GRCh37
NC_000006.10:g.32296297C>T NCBI36
NG_028190.1:g.8526G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375023.3:c.1022G>A MANE Select ENSP00000364163.3:p.Cys341Tyr
ENST00000473562.1:n.1151G>A
NM_004557.3:c.1022G>A NP_004548.3:p.Cys341Tyr
NR_134949.1:n.1161G>A
NR_134950.1:n.1161G>A
NM_004557.4:c.1022G>A MANE Select NP_004548.3:p.Cys341Tyr
NR_134949.2:n.1161G>A
NR_134950.2:n.1161G>A
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