Canonical Allele Identifier: CA8710105
Gene: SCN4A HGNC NCBI

Linked Data

ClinVar Variation Id: 477429
ClinVar RCV Id: RCV000537066
dbSNP Id: rs769107760
ExAC: 17:62049087 C / A
gnomAD v2: 17-62049087-C-A
gnomAD v4: 17-63971727-C-A
MyVariant Identifiers: chr17:g.62049087C>A (hg19) chr17:g.63971727C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63971727C>A , CM000679.2:g.63971727C>A GRCh38
NC_000017.10:g.62049087C>A , CM000679.1:g.62049087C>A GRCh37
NC_000017.9:g.59402819C>A NCBI36
NG_011699.1:g.6192G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.606G>T MANE Select ENSP00000396320.1:p.Met202Ile
ENST00000578147.5:c.606G>T ENSP00000463963.1:p.Met202Ile
NM_000334.4:c.606G>T MANE Select NP_000325.4:p.Met202Ile
XM_005257566.3:c.606G>T XP_005257623.1:p.Met202Ile
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