Canonical Allele Identifier: CA363557283
Gene: NOTCH4 HGNC NCBI

Linked Data

dbSNP Id: rs2127487704
gnomAD v4: 6-32220576-C-A
MyVariant Identifiers: chr6:g.32188353C>A (hg19) chr6:g.32220576C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32220576C>A , CM000668.2:g.32220576C>A GRCh38
NC_000006.11:g.32188353C>A , CM000668.1:g.32188353C>A GRCh37
NC_000006.10:g.32296331C>A NCBI36
NG_028190.1:g.8492G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375023.3:c.988G>T MANE Select ENSP00000364163.3:p.Gly330Cys
ENST00000473562.1:n.1117G>T
NM_004557.3:c.988G>T NP_004548.3:p.Gly330Cys
NR_134949.1:n.1127G>T
NR_134950.1:n.1127G>T
NM_004557.4:c.988G>T MANE Select NP_004548.3:p.Gly330Cys
NR_134949.2:n.1127G>T
NR_134950.2:n.1127G>T
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