Canonical Allele Identifier: CA2270161739
Community Standard Title: NM_000334.4(SCN4A):c.4108A= (p.Met1370=)
Gene: SCN4A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63943006T= , CM000679.2:g.63943006T= GRCh38
NC_000017.10:g.62020366T= , CM000679.1:g.62020366T= GRCh37
NC_000017.9:g.59374098T= NCBI36
NG_011699.1:g.34913A=

Transcript Alleles

HGVS Amino-acid Change
NM_000334.4:c.4108A= MANE Select NP_000325.4:p.Met1370=
ENST00000435607.3:c.4108A= MANE Select ENSP00000396320.1:p.Met1370=
ENST00000578147.5:c.4108A= ENSP00000463963.1:p.Met1370=
XM_005257566.3:c.4108A= XP_005257623.1:p.Met1370=