×
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
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA345718
Gene: SCN4A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143199
ClinVar RCV Id:
RCV001508991
RCV003935227
dbSNP Id:
rs527236148
gnomAD v2:
17-62048561-G-A
gnomAD v4:
17-63971201-G-A
MyVariant Identifiers:
chr17:g.62048561G>A (hg19)
chr17:g.63971201G>A (hg38)
PubMed:
PMID:20301512
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.63971201G>A , CM000679.2:g.63971201G>A
GRCh38
NC_000017.10:g.62048561G>A , CM000679.1:g.62048561G>A
GRCh37
NC_000017.9:g.59402293G>A
NCBI36
NG_011699.1:g.6718C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000435607.3:c.664C>T
MANE Select
ENSP00000396320.1:p.Arg222Trp
ENST00000578147.5:c.664C>T
ENSP00000463963.1:p.Arg222Trp
NM_000334.4:c.664C>T
MANE Select
NP_000325.4:p.Arg222Trp
XM_005257566.3:c.664C>T
XP_005257623.1:p.Arg222Trp
Search 100 bp 5'
Search 100 bp 3'