Canonical Allele Identifier: CA292955218

Gene: SCN4A

Linked Data

• ClinVar Variation Id: 891903
• ClinVar RCV Id: RCV001127489 ; RCV001127490 ; RCV001127492 ; RCV001127491 ; RCV001127493
• dbSNP Id: rs908902727
• gnomAD v3: 17-63939553-C-T
• gnomAD v4: 17-63939553-C-T
• MyVariant Identifiers: chr17:g.62016913C>T (hg19) ; chr17:g.63939553C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63939553C>T , CM000679.2:g.63939553C>T	GRCh38
NC_000017.10:g.62016913C>T , CM000679.1:g.62016913C>T	GRCh37
NC_000017.9:g.59370645C>T	NCBI36
NG_011699.1:g.38366G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.*1218G>A MANE Select	ENSP00000396320.1:n.*1218G>A
ENST00000578147.5:c.*1218G>A	ENSP00000463963.1:n.*1218G>A
NM_000334.4:c.*1218G>A MANE Select	NP_000325.4:n.*1218G>A
XM_005257566.3:c.*1218G>A	XP_005257623.1:n.*1218G>A