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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:
CA15355691
Gene: ADH7
HGNC
NCBI
Linked Data
dbSNP Id:
rs284787
gnomAD v2:
4-100333556-G-A
gnomAD v3:
4-99412399-G-A
gnomAD v4:
4-99412399-G-A
MyVariant Identifiers:
chr4:g.100333556G>A (hg19)
chr4:g.99412399G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.99412399G>A , CM000666.2:g.99412399G>A
GRCh38
NC_000004.11:g.100333556G>A , CM000666.1:g.100333556G>A
GRCh37
NC_000004.10:g.100552579G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000437033.7:c.*749C>T
MANE Select
ENSP00000414254.2:n.*749C>T
ENST00000209665.8:c.*749C>T
ENSP00000209665.4:n.*749C>T
ENST00000437033.6:c.*749C>T
ENSP00000414254.2:n.*749C>T
NM_000673.4:c.*749C>T
NP_000664.2:n.*749C>T
NM_001166504.1:c.*749C>T
NP_001159976.1:n.*749C>T
NM_000673.7:c.*749C>T
MANE Select
NP_000664.3:n.*749C>T
NM_001166504.2:c.*749C>T
NP_001159976.1:n.*749C>T
Search 100 bp 5'
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