Canonical Allele Identifier: CA72960349

Gene: SCN11A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38847992T>G , CM000665.2:g.38847992T>G	GRCh38
NC_000003.11:g.38889483T>G , CM000665.1:g.38889483T>G	GRCh37
NC_000003.10:g.38864487T>G	NCBI36
NG_033859.1:g.107570A>C
NG_033859.2:g.208995A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001349253.2:c.4328-250A>C MANE Select	NP_001336182.1:n.4328-250A>C
ENST00000302328.9:c.4328-250A>C MANE Select	ENSP00000307599.3:n.4328-250A>C
NM_001287223.1:c.4328-250A>C	NP_001274152.1:n.4328-250A>C
NM_001349253.1:c.4328-250A>C	NP_001336182.1:n.4328-250A>C
NM_014139.2:c.4328-250A>C	NP_054858.2:n.4328-250A>C
NM_014139.3:c.4328-250A>C	NP_054858.2:n.4328-250A>C
ENST00000302328.7:c.4328-250A>C	ENSP00000307599.3:n.4328-250A>C
ENST00000456224.7:c.4214-250A>C	ENSP00000416757.3:n.4214-250A>C
ENST00000668754.1:c.4328-250A>C	ENSP00000499569.1:n.4328-250A>C
ENST00000675223.1:c.4406+81A>C	ENSP00000502481.1:n.4406+81A>C
ENST00000675672.1:c.4382-250A>C	ENSP00000502446.1:n.4382-250A>C
ENST00000675892.1:c.4148-250A>C	ENSP00000502318.1:n.4148-250A>C
ENST00000676045.1:c.4372-250A>C	ENSP00000501685.1:n.4372-250A>C
ENST00000676176.1:c.3947-250A>C	ENSP00000501891.1:n.3947-250A>C
XM_011533320.1:c.4328-250A>C	XP_011531622.1:n.4328-250A>C
XM_011533321.1:c.3665-250A>C	XP_011531623.1:n.3665-250A>C
XM_011533321.2:c.3665-250A>C	XP_011531623.1:n.3665-250A>C
XM_011533322.1:c.2876-250A>C	XP_011531624.1:n.2876-250A>C
XM_017005647.1:c.4703-250A>C	XP_016861136.1:n.4703-250A>C
XM_017005648.1:c.4130-250A>C	XP_016861137.1:n.4130-250A>C
XM_017005650.1:c.4328-250A>C	XP_016861139.1:n.4328-250A>C
XM_017005651.1:c.4055-250A>C	XP_016861140.1:n.4055-250A>C
XM_017005653.1:c.2732-250A>C	XP_016861142.1:n.2732-250A>C