Canonical Allele Identifier: CA400616343
Gene: SCN4A HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.62020201T>G (hg19) chr17:g.63942841T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63942841T>G , CM000679.2:g.63942841T>G GRCh38
NC_000017.10:g.62020201T>G , CM000679.1:g.62020201T>G GRCh37
NC_000017.9:g.59373933T>G NCBI36
NG_011699.1:g.35078A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000435607.3:c.4273A>C MANE Select ENSP00000396320.1:p.Ile1425Leu
ENST00000578147.5:c.4273A>C ENSP00000463963.1:p.Ile1425Leu
NM_000334.4:c.4273A>C MANE Select NP_000325.4:p.Ile1425Leu
XM_005257566.3:c.4273A>C XP_005257623.1:p.Ile1425Leu
Search 100 bp 5'
Search 100 bp 3'