Canonical Allele Identifier: CA292957454

Gene: SCN4A

Linked Data

• dbSNP Id: rs893865001
• gnomAD v2: 17-62019384-A-C
• gnomAD v3: 17-63942024-A-C
• gnomAD v4: 17-63942024-A-C
• MyVariant Identifiers: chr17:g.62019384A>C (hg19) ; chr17:g.63942024A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63942024A>C , CM000679.2:g.63942024A>C	GRCh38
NC_000017.10:g.62019384A>C , CM000679.1:g.62019384A>C	GRCh37
NC_000017.9:g.59373116A>C	NCBI36
NG_011699.1:g.35895T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.4289-31T>G MANE Select	ENSP00000396320.1:n.4289-31T>G
ENST00000578147.5:c.4289-31T>G	ENSP00000463963.1:n.4289-31T>G
NM_000334.4:c.4289-31T>G MANE Select	NP_000325.4:n.4289-31T>G
XM_005257566.3:c.4289-31T>G	XP_005257623.1:n.4289-31T>G