Canonical Allele Identifier: CA3740277
Gene: NOTCH4 HGNC NCBI

Linked Data

dbSNP Id: rs760115773
ExAC: 6:32190401 C / T
gnomAD v2: 6-32190401-C-T
gnomAD v4: 6-32222624-C-T
MyVariant Identifiers: chr6:g.32190401C>T (hg19) chr6:g.32222624C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32222624C>T , CM000668.2:g.32222624C>T GRCh38
NC_000006.11:g.32190401C>T , CM000668.1:g.32190401C>T GRCh37
NC_000006.10:g.32298379C>T NCBI36
NG_028190.1:g.6444G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375023.3:c.338G>A MANE Select ENSP00000364163.3:p.Arg113Lys
ENST00000473562.1:n.467G>A
NM_004557.3:c.338G>A NP_004548.3:p.Arg113Lys
NR_134949.1:n.477G>A
NR_134950.1:n.477G>A
NM_004557.4:c.338G>A MANE Select NP_004548.3:p.Arg113Lys
NR_134949.2:n.477G>A
NR_134950.2:n.477G>A
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