Canonical Allele Identifier: CA8709117
Gene: SCN4A HGNC NCBI

Linked Data

ClinVar Variation Id: 2993177
ClinVar RCV Id: RCV003850272
dbSNP Id: rs755028600
ExAC: 17:62022013 G / A
gnomAD v2: 17-62022013-G-A
gnomAD v3: 17-63944653-G-A
gnomAD v4: 17-63944653-G-A
MyVariant Identifiers: chr17:g.62022013G>A (hg19) chr17:g.63944653G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63944653G>A , CM000679.2:g.63944653G>A GRCh38
NC_000017.10:g.62022013G>A , CM000679.1:g.62022013G>A GRCh37
NC_000017.9:g.59375745G>A NCBI36
NG_011699.1:g.33266C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.3912+20C>T MANE Select ENSP00000396320.1:n.3912+20C>T
ENST00000578147.5:c.3916+16C>T ENSP00000463963.1:n.3916+16C>T
NM_000334.4:c.3912+20C>T MANE Select NP_000325.4:n.3912+20C>T
XM_005257566.3:c.3912+20C>T XP_005257623.1:n.3912+20C>T
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