Canonical Allele Identifier: CA2576356234
Gene: SCN4A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63972084T>A , CM000679.2:g.63972084T>A GRCh38
NC_000017.10:g.62049444T>A , CM000679.1:g.62049444T>A GRCh37
NC_000017.9:g.59403176T>A NCBI36
NG_011699.1:g.5835A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.482+52A>T MANE Select ENSP00000396320.1:n.482+52A>T
ENST00000578147.5:c.482+52A>T ENSP00000463963.1:n.482+52A>T
NM_000334.4:c.482+52A>T MANE Select NP_000325.4:n.482+52A>T
XM_005257566.3:c.482+52A>T XP_005257623.1:n.482+52A>T
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