Canonical Allele Identifier: CA352174839

Gene: SCN11A

Linked Data

• MyVariant Identifiers: chr3:g.38936282C>A (hg19) ; chr3:g.38894791C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38894791C>A , CM000665.2:g.38894791C>A	GRCh38
NC_000003.11:g.38936282C>A , CM000665.1:g.38936282C>A	GRCh37
NC_000003.10:g.38911286C>A	NCBI36
NG_033859.1:g.60771G>T
NG_033859.2:g.162196G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302328.9:c.2577G>T MANE Select	ENSP00000307599.3:p.Arg859Ser
ENST00000668754.1:c.2577G>T	ENSP00000499569.1:p.Arg859Ser
ENST00000675223.1:c.2577G>T	ENSP00000502481.1:p.Arg859Ser
ENST00000675672.1:c.2577G>T	ENSP00000502446.1:p.Arg859Ser
ENST00000675892.1:c.2397G>T	ENSP00000502318.1:p.Arg799Ser
ENST00000676045.1:c.2621G>T	ENSP00000501685.1:n.2621G>T
ENST00000676176.1:c.2196G>T	ENSP00000501891.1:p.Arg732Ser
ENST00000302328.7:c.2577G>T	ENSP00000307599.3:p.Arg859Ser
ENST00000444237.2:c.2577G>T	ENSP00000408028.2:p.Arg859Ser
ENST00000456224.7:c.2577G>T	ENSP00000416757.3:p.Arg859Ser
NM_001287223.1:c.2577G>T	NP_001274152.1:p.Arg859Ser
NM_014139.2:c.2577G>T	NP_054858.2:p.Arg859Ser
XM_011533320.1:c.2577G>T	XP_011531622.1:p.Arg859Ser
XM_011533321.1:c.1914G>T	XP_011531623.1:p.Arg638Ser
XM_011533322.1:c.1125G>T	XP_011531624.1:p.Arg375Ser
NM_001349253.1:c.2577G>T	NP_001336182.1:p.Arg859Ser
XM_011533321.2:c.1914G>T	XP_011531623.1:p.Arg638Ser
XM_017005647.1:c.2952G>T	XP_016861136.1:p.Arg984Ser
XM_017005648.1:c.2379G>T	XP_016861137.1:p.Arg793Ser
XM_017005650.1:c.2577G>T	XP_016861139.1:p.Arg859Ser
XM_017005651.1:c.2304G>T	XP_016861140.1:p.Arg768Ser
XM_017005652.1:c.2577G>T	XP_016861141.1:p.Arg859Ser
XM_017005653.1:c.981G>T	XP_016861142.1:p.Arg327Ser
NM_001349253.2:c.2577G>T MANE Select	NP_001336182.1:p.Arg859Ser
NM_014139.3:c.2577G>T	NP_054858.2:p.Arg859Ser