Canonical Allele Identifier: CA292972765
Gene: SCN4A HGNC NCBI

Linked Data

dbSNP Id: rs950236691
gnomAD v4: 17-63972085-G-C
MyVariant Identifiers: chr17:g.62049445G>C (hg19) chr17:g.63972085G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63972085G>C , CM000679.2:g.63972085G>C GRCh38
NC_000017.10:g.62049445G>C , CM000679.1:g.62049445G>C GRCh37
NC_000017.9:g.59403177G>C NCBI36
NG_011699.1:g.5834C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.482+51C>G MANE Select ENSP00000396320.1:n.482+51C>G
ENST00000578147.5:c.482+51C>G ENSP00000463963.1:n.482+51C>G
NM_000334.4:c.482+51C>G MANE Select NP_000325.4:n.482+51C>G
XM_005257566.3:c.482+51C>G XP_005257623.1:n.482+51C>G
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