Canonical Allele Identifier: CA292967476
Gene: SCN4A HGNC NCBI

Linked Data

dbSNP Id: rs551966139
gnomAD v3: 17-63961330-T-A
gnomAD v4: 17-63961330-T-A
MyVariant Identifiers: chr17:g.62038690T>A (hg19) chr17:g.63961330T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63961330T>A , CM000679.2:g.63961330T>A GRCh38
NC_000017.10:g.62038690T>A , CM000679.1:g.62038690T>A GRCh37
NC_000017.9:g.59392422T>A NCBI36
NG_011699.1:g.16589A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.1708A>T MANE Select ENSP00000396320.1:p.Ile570Phe
ENST00000578147.5:c.1708A>T ENSP00000463963.1:p.Ile570Phe
ENST00000581514.1:n.364A>T
NM_000334.4:c.1708A>T MANE Select NP_000325.4:p.Ile570Phe
XM_005257566.3:c.1708A>T XP_005257623.1:p.Ile570Phe
XR_934910.1:n.124+608T>A
XR_001752969.1:n.1276+608T>A
XR_934910.2:n.1276+608T>A
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