Canonical Allele Identifier: CA8709445
Gene: SCN4A HGNC NCBI
ClinVar RCV:
RCV000610965
RCV001468376
RCV003139915
ClinVar Variation:
511273
dbSNP:
375621334
gnomAD v2:
17:62026787 G / A
gnomAD v3:
17:63949427 G / A
gnomAD v4:
chr17-63949427-G-A
Joint Max Group AF 0.00071195 (AFR)
Genomes Max Group AF 0.0004985 (AFR)
Exomes Max Group AF 0.0008313 (AFR)
MyVariant.info:
GRCh38 chr17:g.63949427G>A
GRCh37 chr17:g.62026787G>A
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63949427G>A , CM000679.2:g.63949427G>A GRCh38
NC_000017.10:g.62026787G>A , CM000679.1:g.62026787G>A GRCh37
NC_000017.9:g.59380519G>A NCBI36
NG_011699.1:g.28492C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.2955C>T MANE Select ENSP00000396320.1:p.Pro985=
ENST00000578147.5:c.2955C>T ENSP00000463963.1:p.Pro985=
ENST00000584310.1:n.278C>T
NM_000334.4:c.2955C>T MANE Select NP_000325.4:p.Pro985=
XM_005257566.3:c.2955C>T XP_005257623.1:p.Pro985=
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