Canonical Allele Identifier: CA449728863
Gene: NOTCH4 HGNC NCBI

Linked Data

dbSNP Id: rs1789856112
gnomAD v3: 6-32222644-G-C
gnomAD v4: 6-32222644-G-C
MyVariant Identifiers: chr6:g.32190421G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32222644G>C , CM000668.2:g.32222644G>C GRCh38
NC_000006.11:g.32190421G>C , CM000668.1:g.32190421G>C GRCh37
NC_000006.10:g.32298399G>C NCBI36
NG_028190.1:g.6424C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375023.3:c.318C>G MANE Select ENSP00000364163.3:p.Leu106=
ENST00000473562.1:n.447C>G
NM_004557.3:c.318C>G NP_004548.3:p.Leu106=
NR_134949.1:n.457C>G
NR_134950.1:n.457C>G
NM_004557.4:c.318C>G MANE Select NP_004548.3:p.Leu106=
NR_134949.2:n.457C>G
NR_134950.2:n.457C>G
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