Canonical Allele Identifier: CA352171320

Gene: SCN11A

Linked Data

• MyVariant Identifiers: chr3:g.38913721C>A (hg19) ; chr3:g.38872230C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38872230C>A , CM000665.2:g.38872230C>A	GRCh38
NC_000003.11:g.38913721C>A , CM000665.1:g.38913721C>A	GRCh37
NC_000003.10:g.38888725C>A	NCBI36
NG_033859.1:g.83332G>T
NG_033859.2:g.184757G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302328.9:c.3458G>T MANE Select	ENSP00000307599.3:p.Arg1153Met
ENST00000668754.1:c.3458G>T	ENSP00000499569.1:p.Arg1153Met
ENST00000675223.1:c.3458G>T	ENSP00000502481.1:p.Arg1153Met
ENST00000675672.1:c.3512G>T	ENSP00000502446.1:n.3512G>T
ENST00000675892.1:c.3278G>T	ENSP00000502318.1:p.Arg1093Met
ENST00000676045.1:c.3502G>T	ENSP00000501685.1:n.3502G>T
ENST00000676176.1:c.3077G>T	ENSP00000501891.1:p.Arg1026Met
ENST00000302328.7:c.3458G>T	ENSP00000307599.3:p.Arg1153Met
ENST00000444237.2:c.3458G>T	ENSP00000408028.2:p.Arg1153Met
ENST00000456224.7:c.3344G>T	ENSP00000416757.3:p.Arg1115Met
NM_001287223.1:c.3458G>T	NP_001274152.1:p.Arg1153Met
NM_014139.2:c.3458G>T	NP_054858.2:p.Arg1153Met
XM_011533320.1:c.3458G>T	XP_011531622.1:p.Arg1153Met
XM_011533321.1:c.2795G>T	XP_011531623.1:p.Arg932Met
XM_011533322.1:c.2006G>T	XP_011531624.1:p.Arg669Met
NM_001349253.1:c.3458G>T	NP_001336182.1:p.Arg1153Met
XM_011533321.2:c.2795G>T	XP_011531623.1:p.Arg932Met
XM_017005647.1:c.3833G>T	XP_016861136.1:p.Arg1278Met
XM_017005648.1:c.3260G>T	XP_016861137.1:p.Arg1087Met
XM_017005650.1:c.3458G>T	XP_016861139.1:p.Arg1153Met
XM_017005651.1:c.3185G>T	XP_016861140.1:p.Arg1062Met
XM_017005652.1:c.3458G>T	XP_016861141.1:p.Arg1153Met
XM_017005653.1:c.1862G>T	XP_016861142.1:p.Arg621Met
NM_001349253.2:c.3458G>T MANE Select	NP_001336182.1:p.Arg1153Met
NM_014139.3:c.3458G>T	NP_054858.2:p.Arg1153Met