Canonical Allele Identifier: CA8708958
Gene: SCN4A HGNC NCBI

Linked Data

dbSNP Id: rs749340199
ExAC: 17:62019197 A / ATGACTTTGAGAT
gnomAD v2: 17-62019197-A-ATGACTTTGAGAT
MyVariant Identifiers: chr17:g.62019197_62019198insTGACTTTGAGAT (hg19) chr17:g.63941837_63941838insTGACTTTGAGAT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63941837_63941838insTGACTTTGAGAT , CM000679.2:g.63941837_63941838insTGACTTTGAGAT GRCh38
NC_000017.10:g.62019197_62019198insTGACTTTGAGAT , CM000679.1:g.62019197_62019198insTGACTTTGAGAT GRCh37
NC_000017.9:g.59372929_59372930insTGACTTTGAGAT NCBI36
NG_011699.1:g.36081_36082insATCTCAAAGTCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.4444_4445insATCTCAAAGTCA MANE Select ENSP00000396320.1:p.Leu1482delinsHisLeuLysValIle
ENST00000578147.5:c.4444_4445insATCTCAAAGTCA ENSP00000463963.1:p.Leu1482delinsHisLeuLysValIle
NM_000334.4:c.4444_4445insATCTCAAAGTCA MANE Select NP_000325.4:p.Leu1482delinsHisLeuLysValIle
XM_005257566.3:c.4444_4445insATCTCAAAGTCA XP_005257623.1:p.Leu1482delinsHisLeuLysValIle
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