Canonical Allele Identifier: CA627150427
Gene: SCN4A HGNC NCBI

Linked Data

dbSNP Id: rs1212329560
gnomAD v2: 17-62049894-G-GCAGA
gnomAD v4: 17-63972534-G-GCAGA
MyVariant Identifiers: chr17:g.62049894_62049895insCAGA (hg19) chr17:g.63972534_63972535insCAGA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63972543_63972546dup , CM000679.2:g.63972543_63972546dup GRCh38
NC_000017.10:g.62049903_62049906dup , CM000679.1:g.62049903_62049906dup GRCh37
NC_000017.9:g.59403635_59403638dup NCBI36
NG_011699.1:g.5381_5384dup

Transcript Alleles

HGVS Amino-acid change
ENST00000435607.3:c.273+31_273+34dup MANE Select ENSP00000396320.1:n.273+31_273+34dup
ENST00000578147.5:c.273+31_273+34dup ENSP00000463963.1:n.273+31_273+34dup
NM_000334.4:c.273+31_273+34dup MANE Select NP_000325.4:n.273+31_273+34dup
XM_005257566.3:c.273+31_273+34dup XP_005257623.1:n.273+31_273+34dup
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