Canonical Allele Identifier: CA236327262

Gene: SCN8A

Linked Data

• dbSNP Id: rs1004217348
• gnomAD v3: 12-51806194-T-TAAGG
• gnomAD v4: 12-51806194-T-TAAGG
• MyVariant Identifiers: chr12:g.52199978_52199979insAAGG (hg19) ; chr12:g.51806194_51806195insAAGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51806195_51806198dup , CM000674.2:g.51806195_51806198dup	GRCh38
NC_000012.11:g.52199979_52199982dup , CM000674.1:g.52199979_52199982dup	GRCh37
NC_000012.10:g.50486246_50486249dup	NCBI36
NG_021180.2:g.219960_219963dup
NG_021180.3:g.221238_221241dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000354534.11:c.4796-87_4796-84dup MANE Plus Clinical	ENSP00000346534.4:n.4796-87_4796-84dup
ENST00000627620.5:c.4796-87_4796-84dup MANE Select	ENSP00000487583.2:n.4796-87_4796-84dup
ENST00000636945.2:c.2860-87_2860-84dup
ENST00000662684.1:c.4796-87_4796-84dup	ENSP00000499636.1:n.4796-87_4796-84dup
ENST00000668547.1:c.4673-87_4673-84dup	ENSP00000499691.1:n.4673-87_4673-84dup
ENST00000354534.10:c.4796-87_4796-84dup	ENSP00000346534.4:n.4796-87_4796-84dup
ENST00000355133.7:c.4673-87_4673-84dup	ENSP00000347255.4:n.4673-87_4673-84dup
ENST00000545061.5:c.4673-87_4673-84dup	ENSP00000440360.1:n.4673-87_4673-84dup
ENST00000599343.5:c.4829-87_4829-84dup	ENSP00000476447.3:n.4829-87_4829-84dup
ENST00000627620.2:c.4796-87_4796-84dup	ENSP00000487583.1:n.4796-87_4796-84dup
NM_001177984.2:c.4673-87_4673-84dup	NP_001171455.1:n.4673-87_4673-84dup
NM_014191.3:c.4796-87_4796-84dup	NP_055006.1:n.4796-87_4796-84dup
XM_006719556.2:c.4796-87_4796-84dup	XP_006719619.1:n.4796-87_4796-84dup
XM_011538650.1:c.4796-87_4796-84dup	XP_011536952.1:n.4796-87_4796-84dup
XM_011538651.1:c.4796-87_4796-84dup	XP_011536953.1:n.4796-87_4796-84dup
NM_001330260.1:c.4796-87_4796-84dup	NP_001317189.1:n.4796-87_4796-84dup
XM_006719556.4:c.4796-87_4796-84dup	XP_006719619.1:n.4796-87_4796-84dup
XM_011538651.3:c.4796-87_4796-84dup	XP_011536953.1:n.4796-87_4796-84dup
XM_017019794.2:c.4796-87_4796-84dup	XP_016875283.1:n.4796-87_4796-84dup
XM_017019795.2:c.4673-87_4673-84dup	XP_016875284.1:n.4673-87_4673-84dup
NM_001330260.2:c.4796-87_4796-84dup MANE Select	NP_001317189.1:n.4796-87_4796-84dup
NM_001369788.1:c.4673-87_4673-84dup	NP_001356717.1:n.4673-87_4673-84dup
NM_014191.4:c.4796-87_4796-84dup MANE Plus Clinical	NP_055006.1:n.4796-87_4796-84dup
NM_001177984.3:c.4673-87_4673-84dup	NP_001171455.1:n.4673-87_4673-84dup