Canonical Allele Identifier: CA400633778
Gene: SCN4A HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.62038737T>G (hg19) chr17:g.63961377T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63961377T>G , CM000679.2:g.63961377T>G GRCh38
NC_000017.10:g.62038737T>G , CM000679.1:g.62038737T>G GRCh37
NC_000017.9:g.59392469T>G NCBI36
NG_011699.1:g.16542A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.1661A>C MANE Select ENSP00000396320.1:p.Lys554Thr
ENST00000578147.5:c.1661A>C ENSP00000463963.1:p.Lys554Thr
ENST00000581514.1:n.317A>C
NM_000334.4:c.1661A>C MANE Select NP_000325.4:p.Lys554Thr
XM_005257566.3:c.1661A>C XP_005257623.1:p.Lys554Thr
XR_934910.1:n.124+655T>G
XR_001752969.1:n.1276+655T>G
XR_934910.2:n.1276+655T>G
Search 100 bp 5'
Search 100 bp 3'