Canonical Allele Identifier: CA363557208
Gene: NOTCH4 HGNC NCBI

Linked Data

dbSNP Id: rs2127487579
gnomAD v4: 6-32220543-A-G
MyVariant Identifiers: chr6:g.32188320A>G (hg19) chr6:g.32220543A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32220543A>G , CM000668.2:g.32220543A>G GRCh38
NC_000006.11:g.32188320A>G , CM000668.1:g.32188320A>G GRCh37
NC_000006.10:g.32296298A>G NCBI36
NG_028190.1:g.8525T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375023.3:c.1021T>C MANE Select ENSP00000364163.3:p.Cys341Arg
ENST00000473562.1:n.1150T>C
NM_004557.3:c.1021T>C NP_004548.3:p.Cys341Arg
NR_134949.1:n.1160T>C
NR_134950.1:n.1160T>C
NM_004557.4:c.1021T>C MANE Select NP_004548.3:p.Cys341Arg
NR_134949.2:n.1160T>C
NR_134950.2:n.1160T>C
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