Canonical Allele Identifier: CA363558798
Gene: NOTCH4 HGNC NCBI

Linked Data

dbSNP Id: rs2127490884
gnomAD v4: 6-32222655-A-C
MyVariant Identifiers: chr6:g.32190432A>C (hg19) chr6:g.32222655A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32222655A>C , CM000668.2:g.32222655A>C GRCh38
NC_000006.11:g.32190432A>C , CM000668.1:g.32190432A>C GRCh37
NC_000006.10:g.32298410A>C NCBI36
NG_028190.1:g.6413T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375023.3:c.307T>G MANE Select ENSP00000364163.3:p.Cys103Gly
ENST00000473562.1:n.436T>G
NM_004557.3:c.307T>G NP_004548.3:p.Cys103Gly
NR_134949.1:n.446T>G
NR_134950.1:n.446T>G
NM_004557.4:c.307T>G MANE Select NP_004548.3:p.Cys103Gly
NR_134949.2:n.446T>G
NR_134950.2:n.446T>G
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