Canonical Allele Identifier: CA400616354
Gene: SCN4A HGNC NCBI

Linked Data

ClinVar Variation Id: 2336188
ClinVar RCV Id: RCV002930815
MyVariant Identifiers: chr17:g.62020209A>C (hg19) chr17:g.63942849A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63942849A>C , CM000679.2:g.63942849A>C GRCh38
NC_000017.10:g.62020209A>C , CM000679.1:g.62020209A>C GRCh37
NC_000017.9:g.59373941A>C NCBI36
NG_011699.1:g.35070T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000435607.3:c.4265T>G MANE Select ENSP00000396320.1:p.Val1422Gly
ENST00000578147.5:c.4265T>G ENSP00000463963.1:p.Val1422Gly
NM_000334.4:c.4265T>G MANE Select NP_000325.4:p.Val1422Gly
XM_005257566.3:c.4265T>G XP_005257623.1:p.Val1422Gly
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