Canonical Allele Identifier: CA400617199
Gene: SCN4A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63944671A>T , CM000679.2:g.63944671A>T GRCh38
NC_000017.10:g.62022031A>T , CM000679.1:g.62022031A>T GRCh37
NC_000017.9:g.59375763A>T NCBI36
NG_011699.1:g.33248T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.3912+2T>A MANE Select ENSP00000396320.1:n.3912+2T>A
ENST00000578147.5:c.3914T>A ENSP00000463963.1:p.Met1305Lys
NM_000334.4:c.3912+2T>A MANE Select NP_000325.4:n.3912+2T>A
XM_005257566.3:c.3912+2T>A XP_005257623.1:n.3912+2T>A