Canonical Allele Identifier: CA774007570
Gene: SCN4A HGNC NCBI

Linked Data

dbSNP Id: rs1414664315
MyVariant Identifiers: chr17:g.62019641_62019668del (hg19) chr17:g.63942281_63942308del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63942282_63942309del , CM000679.2:g.63942282_63942309del GRCh38
NC_000017.10:g.62019642_62019669del , CM000679.1:g.62019642_62019669del GRCh37
NC_000017.9:g.59373374_59373401del NCBI36
NG_011699.1:g.35611_35638del

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.4289-315_4289-288del MANE Select ENSP00000396320.1:n.4289-315_4289-288del
ENST00000578147.5:c.4289-315_4289-288del ENSP00000463963.1:n.4289-315_4289-288del
NM_000334.4:c.4289-315_4289-288del MANE Select NP_000325.4:n.4289-315_4289-288del
XM_005257566.3:c.4289-315_4289-288del XP_005257623.1:n.4289-315_4289-288del
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