Canonical Allele Identifier: CA341671
Gene: SCN4A HGNC NCBI
ClinVar RCV:
RCV000020272
ClinVar Variation:
21156
dbSNP:
80338959
gnomAD v4:
chr17-63943036-T-C
Joint Max Group AF 7.9e-7 (NFE)
Exomes Max Group AF 8.4e-7 (NFE)
MyVariant.info:
GRCh38 chr17:g.63943036T>C
GRCh37 chr17:g.62020396T>C
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63943036T>C , CM000679.2:g.63943036T>C GRCh38
NC_000017.10:g.62020396T>C , CM000679.1:g.62020396T>C GRCh37
NC_000017.9:g.59374128T>C NCBI36
NG_011699.1:g.34883A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.4078A>G MANE Select ENSP00000396320.1:p.Met1360Val
ENST00000578147.5:c.4078A>G ENSP00000463963.1:p.Met1360Val
NM_000334.4:c.4078A>G MANE Select NP_000325.4:p.Met1360Val
XM_005257566.3:c.4078A>G XP_005257623.1:p.Met1360Val
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