Canonical Allele Identifier: CA8710029
Gene: SCN4A HGNC NCBI

Linked Data

dbSNP Id: rs758801697
ExAC: 17:62045582 C / G
gnomAD v2: 17-62045582-C-G
gnomAD v3: 17-63968222-C-G
gnomAD v4: 17-63968222-C-G
MyVariant Identifiers: chr17:g.62045582C>G (hg19) chr17:g.63968222C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63968222C>G , CM000679.2:g.63968222C>G GRCh38
NC_000017.10:g.62045582C>G , CM000679.1:g.62045582C>G GRCh37
NC_000017.9:g.59399314C>G NCBI36
NG_011699.1:g.9697G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.837G>C MANE Select ENSP00000396320.1:p.Lys279Asn
ENST00000578147.5:c.837G>C ENSP00000463963.1:p.Lys279Asn
NM_000334.4:c.837G>C MANE Select NP_000325.4:p.Lys279Asn
XM_005257566.3:c.837G>C XP_005257623.1:p.Lys279Asn
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