Canonical Allele Identifier: CA8709043
Gene: SCN4A HGNC NCBI

Linked Data

ClinVar Variation Id: 1005752
ClinVar RCV Id: RCV001302684 RCV003963200
dbSNP Id: rs754311975
ExAC: 17:62020306 T / A
gnomAD v2: 17-62020306-T-A
gnomAD v3: 17-63942946-T-A
gnomAD v4: 17-63942946-T-A
MyVariant Identifiers: chr17:g.62020306T>A (hg19) chr17:g.63942946T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63942946T>A , CM000679.2:g.63942946T>A GRCh38
NC_000017.10:g.62020306T>A , CM000679.1:g.62020306T>A GRCh37
NC_000017.9:g.59374038T>A NCBI36
NG_011699.1:g.34973A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000435607.3:c.4168A>T MANE Select ENSP00000396320.1:p.Met1390Leu
ENST00000578147.5:c.4168A>T ENSP00000463963.1:p.Met1390Leu
NM_000334.4:c.4168A>T MANE Select NP_000325.4:p.Met1390Leu
XM_005257566.3:c.4168A>T XP_005257623.1:p.Met1390Leu
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