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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:
CA292966938
Gene: SCN4A
HGNC
NCBI
Linked Data
dbSNP Id:
rs914586984
gnomAD v3:
17-63959275-G-C
gnomAD v4:
17-63959275-G-C
MyVariant Identifiers:
chr17:g.62036635G>C (hg19)
chr17:g.63959275G>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.63959275G>C , CM000679.2:g.63959275G>C
GRCh38
NC_000017.10:g.62036635G>C , CM000679.1:g.62036635G>C
GRCh37
NC_000017.9:g.59390367G>C
NCBI36
NG_011699.1:g.18644C>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000435607.3:c.2009C>G
MANE Select
ENSP00000396320.1:p.Ser670Cys
ENST00000578147.5:c.2009C>G
ENSP00000463963.1:p.Ser670Cys
NM_000334.4:c.2009C>G
MANE Select
NP_000325.4:p.Ser670Cys
XM_005257566.3:c.2009C>G
XP_005257623.1:p.Ser670Cys
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