Canonical Allele Identifier: CA8708921

Gene: SCN4A

Linked Data

• ClinVar Variation Id: 324516
• ClinVar RCV Id: RCV000261866 ; RCV000286707 ; RCV000317202 ; RCV000323034 ; RCV000371794
• dbSNP Id: rs751454852
• ExAC: 17:62018975 T / C
• gnomAD v2: 17-62018975-T-C
• gnomAD v4: 17-63941615-T-C
• MyVariant Identifiers: chr17:g.62018975T>C (hg19) ; chr17:g.63941615T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63941615T>C , CM000679.2:g.63941615T>C	GRCh38
NC_000017.10:g.62018975T>C , CM000679.1:g.62018975T>C	GRCh37
NC_000017.9:g.59372707T>C	NCBI36
NG_011699.1:g.36304A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.4667A>G MANE Select	ENSP00000396320.1:p.Asn1556Ser
ENST00000578147.5:c.4667A>G	ENSP00000463963.1:p.Asn1556Ser
NM_000334.4:c.4667A>G MANE Select	NP_000325.4:p.Asn1556Ser
XM_005257566.3:c.4667A>G	XP_005257623.1:p.Asn1556Ser