Canonical Allele Identifier: CA3739495
Gene: NOTCH4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1287108
ClinVar RCV Id: RCV001708733
dbSNP Id: rs9267822
ExAC: 6:32170407 C / G
gnomAD v2: 6-32170407-C-G
gnomAD v3: 6-32202630-C-G
gnomAD v4: 6-32202630-C-G
MyVariant Identifiers: chr6:g.32170407C>G (hg19) chr6:g.32202630C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32202630C>G , CM000668.2:g.32202630C>G GRCh38
NC_000006.11:g.32170407C>G , CM000668.1:g.32170407C>G GRCh37
NC_000006.10:g.32278385C>G NCBI36
NG_028190.1:g.26438G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375023.3:c.3232-31G>C MANE Select ENSP00000364163.3:n.3232-31G>C
ENST00000474612.1:n.1287G>C
NM_004557.3:c.3232-31G>C NP_004548.3:n.3232-31G>C
NR_134949.1:n.3473-1130G>C
NR_134950.1:n.3371-1130G>C
NM_004557.4:c.3232-31G>C MANE Select NP_004548.3:n.3232-31G>C
NR_134949.2:n.3473-1130G>C
NR_134950.2:n.3371-1130G>C
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