Canonical Allele Identifier: CA400633754

Gene: SCN4A

Linked Data

• gnomAD v4: 17-63961375-C-T
• MyVariant Identifiers: chr17:g.62038735C>T (hg19) ; chr17:g.63961375C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63961375C>T , CM000679.2:g.63961375C>T	GRCh38
NC_000017.10:g.62038735C>T , CM000679.1:g.62038735C>T	GRCh37
NC_000017.9:g.59392467C>T	NCBI36
NG_011699.1:g.16544G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.1663G>A MANE Select	ENSP00000396320.1:p.Val555Met
ENST00000578147.5:c.1663G>A	ENSP00000463963.1:p.Val555Met
ENST00000581514.1:n.319G>A
NM_000334.4:c.1663G>A MANE Select	NP_000325.4:p.Val555Met
XM_005257566.3:c.1663G>A	XP_005257623.1:p.Val555Met
XR_934910.1:n.124+653C>T
XR_001752969.1:n.1276+653C>T
XR_934910.2:n.1276+653C>T