Canonical Allele Identifier: CA8709386
Gene: SCN4A HGNC NCBI

Linked Data

ClinVar Variation Id: 324524
ClinVar RCV Id: RCV000298316 RCV000301675 RCV000341585 RCV000393109 RCV000479192 RCV000697130 RCV000766442 RCV002523001
dbSNP Id: rs759982229
ExAC: 17:62025979 C / A
gnomAD v2: 17-62025979-C-A
gnomAD v3: 17-63948619-C-A
gnomAD v4: 17-63948619-C-A
MyVariant Identifiers: chr17:g.62025979C>A (hg19) chr17:g.63948619C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63948619C>A , CM000679.2:g.63948619C>A GRCh38
NC_000017.10:g.62025979C>A , CM000679.1:g.62025979C>A GRCh37
NC_000017.9:g.59379711C>A NCBI36
NG_011699.1:g.29300G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000435607.3:c.3136G>T MANE Select ENSP00000396320.1:p.Gly1046Trp
ENST00000578147.5:c.3136G>T ENSP00000463963.1:p.Gly1046Trp
ENST00000584310.1:n.459G>T
NM_000334.4:c.3136G>T MANE Select NP_000325.4:p.Gly1046Trp
XM_005257566.3:c.3136G>T XP_005257623.1:p.Gly1046Trp
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