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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA3740319
Gene: NOTCH4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1294875
ClinVar RCV Id:
RCV001720779
dbSNP Id:
rs3134931
ExAC:
6:32190620 T / C
gnomAD v2:
6-32190620-T-C
gnomAD v3:
6-32222843-T-C
gnomAD v4:
6-32222843-T-C
MyVariant Identifiers:
chr6:g.32190620T>C (hg19)
chr6:g.32222843T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.32222843T>C , CM000668.2:g.32222843T>C
GRCh38
NC_000006.11:g.32190620T>C , CM000668.1:g.32190620T>C
GRCh37
NC_000006.10:g.32298598T>C
NCBI36
NG_028190.1:g.6225A>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000375023.3:c.156-37A>G
MANE Select
ENSP00000364163.3:n.156-37A>G
ENST00000473562.1:n.285-37A>G
NM_004557.3:c.156-37A>G
NP_004548.3:n.156-37A>G
NR_134949.1:n.295-37A>G
NR_134950.1:n.295-37A>G
NM_004557.4:c.156-37A>G
MANE Select
NP_004548.3:n.156-37A>G
NR_134949.2:n.295-37A>G
NR_134950.2:n.295-37A>G
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