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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:
CA205612
Gene: SCN4A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
195797
ClinVar RCV Id:
RCV000192652
RCV000276428
RCV000331539
RCV000356751
RCV000371033
RCV000713115
RCV001083289
RCV003927624
dbSNP Id:
rs202106192
ExAC:
17:62018952 C / T
gnomAD v2:
17-62018952-C-T
gnomAD v3:
17-63941592-C-T
gnomAD v4:
17-63941592-C-T
MyVariant Identifiers:
chr17:g.62018952C>T (hg19)
chr17:g.63941592C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.63941592C>T , CM000679.2:g.63941592C>T
GRCh38
NC_000017.10:g.62018952C>T , CM000679.1:g.62018952C>T
GRCh37
NC_000017.9:g.59372684C>T
NCBI36
NG_011699.1:g.36327G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000435607.3:c.4690G>A
MANE Select
ENSP00000396320.1:p.Val1564Ile
ENST00000578147.5:c.4690G>A
ENSP00000463963.1:p.Val1564Ile
NM_000334.4:c.4690G>A
MANE Select
NP_000325.4:p.Val1564Ile
XM_005257566.3:c.4690G>A
XP_005257623.1:p.Val1564Ile
Search 100 bp 5'
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