Canonical Allele Identifier: CA627150506
Gene: SCN4A HGNC NCBI

Linked Data

ClinVar Variation Id: 970818
ClinVar RCV Id: RCV001246463
dbSNP Id: rs1326940129
gnomAD v2: 17-62022031-ATCT-A
gnomAD v3: 17-63944671-ATCT-A
gnomAD v4: 17-63944671-ATCT-A
MyVariant Identifiers: chr17:g.62022032_62022034del (hg19) chr17:g.63944672_63944674del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63944681_63944683del , CM000679.2:g.63944681_63944683del GRCh38
NC_000017.10:g.62022041_62022043del , CM000679.1:g.62022041_62022043del GRCh37
NC_000017.9:g.59375773_59375775del NCBI36
NG_011699.1:g.33245_33247del

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.3911_3912+1del
ENST00000578147.5:c.3911_3913del ENSP00000463963.1:p.Lys1304del
NM_000334.4:c.3911_3912+1del
XM_005257566.3:c.3911_3912+1del
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