Canonical Allele Identifier: CA400617797
Gene: SCN4A HGNC NCBI

Linked Data

dbSNP Id: rs1567818041
gnomAD v3: 17-63945416-T-G
gnomAD v4: 17-63945416-T-G
MyVariant Identifiers: chr17:g.62022776T>G (hg19) chr17:g.63945416T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63945416T>G , CM000679.2:g.63945416T>G GRCh38
NC_000017.10:g.62022776T>G , CM000679.1:g.62022776T>G GRCh37
NC_000017.9:g.59376508T>G NCBI36
NG_011699.1:g.32503A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.3664A>C MANE Select ENSP00000396320.1:p.Asn1222His
ENST00000578147.5:c.3664A>C ENSP00000463963.1:p.Asn1222His
NM_000334.4:c.3664A>C MANE Select NP_000325.4:p.Asn1222His
XM_005257566.3:c.3664A>C XP_005257623.1:p.Asn1222His
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