×
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:
CA400631582
Gene: SCN4A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
617484
ClinVar RCV Id:
RCV000754616
dbSNP Id:
rs914586984
MyVariant Identifiers:
chr17:g.62036635G>T (hg19)
chr17:g.63959275G>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.63959275G>T , CM000679.2:g.63959275G>T
GRCh38
NC_000017.10:g.62036635G>T , CM000679.1:g.62036635G>T
GRCh37
NC_000017.9:g.59390367G>T
NCBI36
NG_011699.1:g.18644C>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000435607.3:c.2009C>A
MANE Select
ENSP00000396320.1:p.Ser670Tyr
ENST00000578147.5:c.2009C>A
ENSP00000463963.1:p.Ser670Tyr
NM_000334.4:c.2009C>A
MANE Select
NP_000325.4:p.Ser670Tyr
XM_005257566.3:c.2009C>A
XP_005257623.1:p.Ser670Tyr
Search 100 bp 5'
Search 100 bp 3'