Canonical Allele Identifier: CA2270169457
Gene: SCN4A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63959175T= , CM000679.2:g.63959175T= GRCh38
NC_000017.10:g.62036535T= , CM000679.1:g.62036535T= GRCh37
NC_000017.9:g.59390267T= NCBI36
NG_011699.1:g.18744A=

Transcript Alleles

HGVS Amino-acid change
ENST00000435607.3:c.2019+90A= MANE Select ENSP00000396320.1:n.2019+90A=
ENST00000578147.5:c.2019+90A= ENSP00000463963.1:n.2019+90A=
NM_000334.4:c.2019+90A= MANE Select NP_000325.4:n.2019+90A=
XM_005257566.3:c.2019+90A= XP_005257623.1:n.2019+90A=
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