Canonical Allele Identifier: CA400617425
Gene: SCN4A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63944770T>G , CM000679.2:g.63944770T>G GRCh38
NC_000017.10:g.62022130T>G , CM000679.1:g.62022130T>G GRCh37
NC_000017.9:g.59375862T>G NCBI36
NG_011699.1:g.33149A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.3815A>C MANE Select ENSP00000396320.1:p.Tyr1272Ser
ENST00000578147.5:c.3815A>C ENSP00000463963.1:p.Tyr1272Ser
NM_000334.4:c.3815A>C MANE Select NP_000325.4:p.Tyr1272Ser
XM_005257566.3:c.3815A>C XP_005257623.1:p.Tyr1272Ser