Canonical Allele Identifier: CA352173038

Gene: SCN11A

Linked Data

• MyVariant Identifiers: chr3:g.38966904A>C (hg19) ; chr3:g.38925413A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38925413A>C , CM000665.2:g.38925413A>C	GRCh38
NC_000003.11:g.38966904A>C , CM000665.1:g.38966904A>C	GRCh37
NC_000003.10:g.38941908A>C	NCBI36
NG_033859.1:g.30149T>G
NG_033859.2:g.131574T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302328.9:c.712+2T>G MANE Select	ENSP00000307599.3:n.712+2T>G
ENST00000668754.1:c.712+2T>G	ENSP00000499569.1:n.712+2T>G
ENST00000675223.1:c.712+2T>G	ENSP00000502481.1:n.712+2T>G
ENST00000675672.1:c.712+2T>G	ENSP00000502446.1:n.712+2T>G
ENST00000675892.1:c.712+2T>G	ENSP00000502318.1:n.712+2T>G
ENST00000676045.1:c.756+2T>G	ENSP00000501685.1:n.756+2T>G
ENST00000676176.1:c.712+2T>G	ENSP00000501891.1:n.712+2T>G
ENST00000302328.7:c.712+2T>G	ENSP00000307599.3:n.712+2T>G
ENST00000444237.2:c.712+2T>G	ENSP00000408028.2:n.712+2T>G
ENST00000456224.7:c.712+2T>G	ENSP00000416757.3:n.712+2T>G
NM_001287223.1:c.712+2T>G	NP_001274152.1:n.712+2T>G
NM_014139.2:c.712+2T>G	NP_054858.2:n.712+2T>G
XM_011533320.1:c.712+2T>G	XP_011531622.1:n.712+2T>G
XM_011533321.1:c.131+2T>G	XP_011531623.1:n.131+2T>G
NM_001349253.1:c.712+2T>G	NP_001336182.1:n.712+2T>G
XM_011533321.2:c.131+2T>G	XP_011531623.1:n.131+2T>G
XM_017005647.1:c.1087+2T>G	XP_016861136.1:n.1087+2T>G
XM_017005648.1:c.712+2T>G	XP_016861137.1:n.712+2T>G
XM_017005650.1:c.712+2T>G	XP_016861139.1:n.712+2T>G
XM_017005651.1:c.439+2T>G	XP_016861140.1:n.439+2T>G
XM_017005652.1:c.712+2T>G	XP_016861141.1:n.712+2T>G
NM_001349253.2:c.712+2T>G MANE Select	NP_001336182.1:n.712+2T>G
NM_014139.3:c.712+2T>G	NP_054858.2:n.712+2T>G