Canonical Allele Identifier: CA384889846
Gene: SCN8A HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.52201112G>T (hg19) chr12:g.51807328G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51807328G>T , CM000674.2:g.51807328G>T GRCh38
NC_000012.11:g.52201112G>T , CM000674.1:g.52201112G>T GRCh37
NC_000012.10:g.50487379G>T NCBI36
NG_021180.2:g.221093G>T
NG_021180.3:g.222371G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000354534.11:c.5842G>T MANE Plus Clinical ENSP00000346534.4:p.Asp1948Tyr
ENST00000627620.5:c.5842G>T MANE Select ENSP00000487583.2:p.Asp1948Tyr
ENST00000662684.1:c.5842G>T ENSP00000499636.1:p.Asp1948Tyr
ENST00000668547.1:c.5719G>T ENSP00000499691.1:p.Asp1907Tyr
ENST00000354534.10:c.5842G>T ENSP00000346534.4:p.Asp1948Tyr
ENST00000355133.7:c.5719G>T ENSP00000347255.4:p.Asp1907Tyr
ENST00000545061.5:c.5719G>T ENSP00000440360.1:p.Asp1907Tyr
ENST00000599343.5:c.5875G>T ENSP00000476447.3:p.Asp1959Tyr
ENST00000627620.2:c.5842G>T ENSP00000487583.1:p.Asp1948Tyr
NM_001177984.2:c.5719G>T NP_001171455.1:p.Asp1907Tyr
NM_014191.3:c.5842G>T NP_055006.1:p.Asp1948Tyr
XM_006719556.2:c.5842G>T XP_006719619.1:p.Asp1948Tyr
XM_011538650.1:c.5842G>T XP_011536952.1:p.Asp1948Tyr
XM_011538651.1:c.5842G>T XP_011536953.1:p.Asp1948Tyr
NM_001330260.1:c.5842G>T NP_001317189.1:p.Asp1948Tyr
XM_006719556.4:c.5842G>T XP_006719619.1:p.Asp1948Tyr
XM_011538651.3:c.5842G>T XP_011536953.1:p.Asp1948Tyr
XM_017019794.2:c.5842G>T XP_016875283.1:p.Asp1948Tyr
XM_017019795.2:c.5719G>T XP_016875284.1:p.Asp1907Tyr
NM_001330260.2:c.5842G>T MANE Select NP_001317189.1:p.Asp1948Tyr
NM_001369788.1:c.5719G>T NP_001356717.1:p.Asp1907Tyr
NM_014191.4:c.5842G>T MANE Plus Clinical NP_055006.1:p.Asp1948Tyr
NM_001177984.3:c.5719G>T NP_001171455.1:p.Asp1907Tyr
Search 100 bp 5'
Search 100 bp 3'