Canonical Allele Identifier: CA363557388
Gene: NOTCH4 HGNC NCBI

Linked Data

dbSNP Id: rs1176951172
gnomAD v2: 6-32188399-A-C
gnomAD v3: 6-32220622-A-C
gnomAD v4: 6-32220622-A-C
MyVariant Identifiers: chr6:g.32188399A>C (hg19) chr6:g.32220622A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32220622A>C , CM000668.2:g.32220622A>C GRCh38
NC_000006.11:g.32188399A>C , CM000668.1:g.32188399A>C GRCh37
NC_000006.10:g.32296377A>C NCBI36
NG_028190.1:g.8446T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375023.3:c.942T>G MANE Select ENSP00000364163.3:p.Asp314Glu
ENST00000473562.1:n.1071T>G
NM_004557.3:c.942T>G NP_004548.3:p.Asp314Glu
NR_134949.1:n.1081T>G
NR_134950.1:n.1081T>G
NM_004557.4:c.942T>G MANE Select NP_004548.3:p.Asp314Glu
NR_134949.2:n.1081T>G
NR_134950.2:n.1081T>G
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