Canonical Allele Identifier: CA10640187
Gene: SCN4A HGNC NCBI

Linked Data

ClinVar Variation Id: 324465
ClinVar RCV Id: RCV000302942 RCV000303993 RCV000342462 RCV000355485 RCV000395408
dbSNP Id: rs182791237
gnomAD v2: 17-62015981-G-T
gnomAD v3: 17-63938621-G-T
gnomAD v4: 17-63938621-G-T
MyVariant Identifiers: chr17:g.62015981G>T (hg19) chr17:g.63938621G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63938621G>T , CM000679.2:g.63938621G>T GRCh38
NC_000017.10:g.62015981G>T , CM000679.1:g.62015981G>T GRCh37
NC_000017.9:g.59369713G>T NCBI36
NG_011699.1:g.39298C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.*2150C>A MANE Select ENSP00000396320.1:n.*2150C>A
ENST00000578147.5:c.*2150C>A ENSP00000463963.1:n.*2150C>A
NM_000334.4:c.*2150C>A MANE Select NP_000325.4:n.*2150C>A
XM_005257566.3:c.*2150C>A XP_005257623.1:n.*2150C>A
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