Canonical Allele Identifier: CA400633721
Gene: SCN4A HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.62038729T>C (hg19) chr17:g.63961369T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63961369T>C , CM000679.2:g.63961369T>C GRCh38
NC_000017.10:g.62038729T>C , CM000679.1:g.62038729T>C GRCh37
NC_000017.9:g.59392461T>C NCBI36
NG_011699.1:g.16550A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.1669A>G MANE Select ENSP00000396320.1:p.Ile557Val
ENST00000578147.5:c.1669A>G ENSP00000463963.1:p.Ile557Val
ENST00000581514.1:n.325A>G
NM_000334.4:c.1669A>G MANE Select NP_000325.4:p.Ile557Val
XM_005257566.3:c.1669A>G XP_005257623.1:p.Ile557Val
XR_934910.1:n.124+647T>C
XR_001752969.1:n.1276+647T>C
XR_934910.2:n.1276+647T>C
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