Canonical Allele Identifier: CA400631603
Gene: SCN4A HGNC NCBI

Linked Data

dbSNP Id: rs2144795500
MyVariant Identifiers: chr17:g.62036642G>C (hg19) chr17:g.63959282G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63959282G>C , CM000679.2:g.63959282G>C GRCh38
NC_000017.10:g.62036642G>C , CM000679.1:g.62036642G>C GRCh37
NC_000017.9:g.59390374G>C NCBI36
NG_011699.1:g.18637C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000435607.3:c.2002C>G MANE Select ENSP00000396320.1:p.Leu668Val
ENST00000578147.5:c.2002C>G ENSP00000463963.1:p.Leu668Val
NM_000334.4:c.2002C>G MANE Select NP_000325.4:p.Leu668Val
XM_005257566.3:c.2002C>G XP_005257623.1:p.Leu668Val
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