Canonical Allele Identifier: CA292957151
Gene: SCN4A HGNC NCBI

Linked Data

dbSNP Id: rs760936800
gnomAD v4: 17-63941809-C-G
MyVariant Identifiers: chr17:g.62019169C>G (hg19) chr17:g.63941809C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63941809C>G , CM000679.2:g.63941809C>G GRCh38
NC_000017.10:g.62019169C>G , CM000679.1:g.62019169C>G GRCh37
NC_000017.9:g.59372901C>G NCBI36
NG_011699.1:g.36110G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000435607.3:c.4473G>C MANE Select ENSP00000396320.1:p.Leu1491=
ENST00000578147.5:c.4473G>C ENSP00000463963.1:p.Leu1491=
NM_000334.4:c.4473G>C MANE Select NP_000325.4:p.Leu1491=
XM_005257566.3:c.4473G>C XP_005257623.1:p.Leu1491=
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