Canonical Allele Identifier: CA400631581
Gene: SCN4A HGNC NCBI

Linked Data

gnomAD v4: 17-63959275-G-A
MyVariant Identifiers: chr17:g.62036635G>A (hg19) chr17:g.63959275G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63959275G>A , CM000679.2:g.63959275G>A GRCh38
NC_000017.10:g.62036635G>A , CM000679.1:g.62036635G>A GRCh37
NC_000017.9:g.59390367G>A NCBI36
NG_011699.1:g.18644C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000435607.3:c.2009C>T MANE Select ENSP00000396320.1:p.Ser670Phe
ENST00000578147.5:c.2009C>T ENSP00000463963.1:p.Ser670Phe
NM_000334.4:c.2009C>T MANE Select NP_000325.4:p.Ser670Phe
XM_005257566.3:c.2009C>T XP_005257623.1:p.Ser670Phe
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