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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:
CA395103535
Gene: SCNN1G
HGNC
NCBI
Linked Data
COSMIC:
COSM1265071
MyVariant Identifiers:
chr16:g.23226561C>T (hg19)
chr16:g.23215240C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.23215240C>T , CM000678.2:g.23215240C>T
GRCh38
NC_000016.9:g.23226561C>T , CM000678.1:g.23226561C>T
GRCh37
NC_000016.8:g.23134062C>T
NCBI36
NG_011909.1:g.37522C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000300061.3:c.1721C>T
MANE Select
ENSP00000300061.2:p.Ala574Val
ENST00000300061.2:c.1721C>T
ENSP00000300061.2:p.Ala574Val
NM_001039.3:c.1721C>T
NP_001030.2:p.Ala574Val
NM_001039.4:c.1721C>T
MANE Select
NP_001030.2:p.Ala574Val
Search 100 bp 5'
Search 100 bp 3'