Canonical Allele Identifier: CA8709214
Gene: SCN4A HGNC NCBI

Linked Data

dbSNP Id: rs762755666
ExAC: 17:62022788 C / A
gnomAD v2: 17-62022788-C-A
gnomAD v4: 17-63945428-C-A
COSMIC: COSM5520752
MyVariant Identifiers: chr17:g.62022788C>A (hg19) chr17:g.63945428C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63945428C>A , CM000679.2:g.63945428C>A GRCh38
NC_000017.10:g.62022788C>A , CM000679.1:g.62022788C>A GRCh37
NC_000017.9:g.59376520C>A NCBI36
NG_011699.1:g.32491G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000435607.3:c.3652G>T MANE Select ENSP00000396320.1:p.Val1218Phe
ENST00000578147.5:c.3652G>T ENSP00000463963.1:p.Val1218Phe
NM_000334.4:c.3652G>T MANE Select NP_000325.4:p.Val1218Phe
XM_005257566.3:c.3652G>T XP_005257623.1:p.Val1218Phe
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