Canonical Allele Identifier: CA2618844427

Gene: SCN8A

Linked Data

• gnomAD v4: 12-51790344-C-CTTAGGTCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51790344_51790345insTTAGGTCCA , CM000674.2:g.51790344_51790345insTTAGGTCCA	GRCh38
NC_000012.11:g.52184128_52184129insTTAGGTCCA , CM000674.1:g.52184128_52184129insTTAGGTCCA	GRCh37
NC_000012.10:g.50470395_50470396insTTAGGTCCA	NCBI36
NG_021180.2:g.204109_204110insTTAGGTCCA
NG_021180.3:g.205387_205388insTTAGGTCCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000354534.11:c.4420-54_4420-53insTTAGGTCCA MANE Plus Clinical	ENSP00000346534.4:n.4420-54_4420-53insTTA...
ENST00000627620.5:c.4420-54_4420-53insTTAGGTCCA MANE Select	ENSP00000487583.2:n.4420-54_4420-53insTTA...
ENST00000636945.2:c.2484-54_2484-53insTTAGGTCCA
ENST00000662684.1:c.4420-54_4420-53insTTAGGTCCA	ENSP00000499636.1:n.4420-54_4420-53insTTA...
ENST00000668547.1:c.4297-54_4297-53insTTAGGTCCA	ENSP00000499691.1:n.4297-54_4297-53insTTA...
ENST00000354534.10:c.4420-54_4420-53insTTAGGTCCA	ENSP00000346534.4:n.4420-54_4420-53insTTA...
ENST00000355133.7:c.4297-54_4297-53insTTAGGTCCA	ENSP00000347255.4:n.4297-54_4297-53insTTA...
ENST00000545061.5:c.4297-54_4297-53insTTAGGTCCA	ENSP00000440360.1:n.4297-54_4297-53insTTA...
ENST00000599343.5:c.4453-54_4453-53insTTAGGTCCA	ENSP00000476447.3:n.4453-54_4453-53insTTA...
ENST00000627620.2:c.4420-54_4420-53insTTAGGTCCA	ENSP00000487583.1:n.4420-54_4420-53insTTA...
NM_001177984.2:c.4297-54_4297-53insTTAGGTCCA	NP_001171455.1:n.4297-54_4297-53insTTAGGT...
NM_014191.3:c.4420-54_4420-53insTTAGGTCCA	NP_055006.1:n.4420-54_4420-53insTTAGGTCCA...
XM_006719556.2:c.4420-54_4420-53insTTAGGTCCA	XP_006719619.1:n.4420-54_4420-53insTTAGGT...
XM_011538650.1:c.4420-54_4420-53insTTAGGTCCA	XP_011536952.1:n.4420-54_4420-53insTTAGGT...
XM_011538651.1:c.4420-54_4420-53insTTAGGTCCA	XP_011536953.1:n.4420-54_4420-53insTTAGGT...
NM_001330260.1:c.4420-54_4420-53insTTAGGTCCA	NP_001317189.1:n.4420-54_4420-53insTTAGGT...
XM_006719556.4:c.4420-54_4420-53insTTAGGTCCA	XP_006719619.1:n.4420-54_4420-53insTTAGGT...
XM_011538651.3:c.4420-54_4420-53insTTAGGTCCA	XP_011536953.1:n.4420-54_4420-53insTTAGGT...
XM_017019794.2:c.4420-54_4420-53insTTAGGTCCA	XP_016875283.1:n.4420-54_4420-53insTTAGGT...
XM_017019795.2:c.4297-54_4297-53insTTAGGTCCA	XP_016875284.1:n.4297-54_4297-53insTTAGGT...
NM_001330260.2:c.4420-54_4420-53insTTAGGTCCA MANE Select	NP_001317189.1:n.4420-54_4420-53insTTAGGT...
NM_001369788.1:c.4297-54_4297-53insTTAGGTCCA	NP_001356717.1:n.4297-54_4297-53insTTAGGT...
NM_014191.4:c.4420-54_4420-53insTTAGGTCCA MANE Plus Clinical	NP_055006.1:n.4420-54_4420-53insTTAGGTCCA...
NM_001177984.3:c.4297-54_4297-53insTTAGGTCCA	NP_001171455.1:n.4297-54_4297-53insTTAGGT...