Canonical Allele Identifier: CA400633535
Gene: SCN4A HGNC NCBI

Linked Data

dbSNP Id: rs1909247046
MyVariant Identifiers: chr17:g.62038698A>C (hg19) chr17:g.63961338A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63961338A>C , CM000679.2:g.63961338A>C GRCh38
NC_000017.10:g.62038698A>C , CM000679.1:g.62038698A>C GRCh37
NC_000017.9:g.59392430A>C NCBI36
NG_011699.1:g.16581T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.1700T>G MANE Select ENSP00000396320.1:p.Phe567Cys
ENST00000578147.5:c.1700T>G ENSP00000463963.1:p.Phe567Cys
ENST00000581514.1:n.356T>G
NM_000334.4:c.1700T>G MANE Select NP_000325.4:p.Phe567Cys
XM_005257566.3:c.1700T>G XP_005257623.1:p.Phe567Cys
XR_934910.1:n.124+616A>C
XR_001752969.1:n.1276+616A>C
XR_934910.2:n.1276+616A>C
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