Canonical Allele Identifier: CA8709823
Gene: SCN4A HGNC NCBI
ClinVar RCV:
RCV000493097
RCV000700005
RCV002506196
ClinVar Variation:
430131
dbSNP:
201793080
gnomAD v2:
17:62041118 T / C
gnomAD v3:
17:63963758 T / C
gnomAD v4:
chr17-63963758-T-C
Joint Max Group AF 0.00144182 (AFR)
Genomes Max Group AF 0.00125769 (AFR)
Exomes Max Group AF 0.00145919 (AFR)
MyVariant.info:
GRCh38 chr17:g.63963758T>C
GRCh37 chr17:g.62041118T>C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63963758T>C , CM000679.2:g.63963758T>C GRCh38
NC_000017.10:g.62041118T>C , CM000679.1:g.62041118T>C GRCh37
NC_000017.9:g.59394850T>C NCBI36
NG_011699.1:g.14161A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.1520A>G MANE Select ENSP00000396320.1:p.Asn507Ser
ENST00000578147.5:c.1520A>G ENSP00000463963.1:p.Asn507Ser
NM_000334.4:c.1520A>G MANE Select NP_000325.4:p.Asn507Ser
XM_005257566.3:c.1520A>G XP_005257623.1:p.Asn507Ser
XR_934910.1:n.174+444T>C
XR_001752969.1:n.1327-326T>C
XR_001752970.1:n.279-326T>C
XR_934910.2:n.1326+444T>C
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