Canonical Allele Identifier: CA2270169454
Gene: SCN4A HGNC NCBI

Linked Data

dbSNP Id: rs1909165099

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63959170C>T , CM000679.2:g.63959170C>T GRCh38
NC_000017.10:g.62036530C>T , CM000679.1:g.62036530C>T GRCh37
NC_000017.9:g.59390262C>T NCBI36
NG_011699.1:g.18749G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000435607.3:c.2019+95G>A MANE Select ENSP00000396320.1:n.2019+95G>A
ENST00000578147.5:c.2019+95G>A ENSP00000463963.1:n.2019+95G>A
NM_000334.4:c.2019+95G>A MANE Select NP_000325.4:n.2019+95G>A
XM_005257566.3:c.2019+95G>A XP_005257623.1:n.2019+95G>A