Canonical Allele Identifier: CA542283996

Gene: SCN11A

Linked Data

• dbSNP Id: rs1247933310
• gnomAD v2: 3-38913802-C-G
• gnomAD v4: 3-38872311-C-G
• MyVariant Identifiers: chr3:g.38913802C>G (hg19) ; chr3:g.38872311C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38872311C>G , CM000665.2:g.38872311C>G	GRCh38
NC_000003.11:g.38913802C>G , CM000665.1:g.38913802C>G	GRCh37
NC_000003.10:g.38888806C>G	NCBI36
NG_033859.1:g.83251G>C
NG_033859.2:g.184676G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302328.9:c.3394-17G>C MANE Select	ENSP00000307599.3:n.3394-17G>C
ENST00000668754.1:c.3394-17G>C	ENSP00000499569.1:n.3394-17G>C
ENST00000675223.1:c.3394-17G>C	ENSP00000502481.1:n.3394-17G>C
ENST00000675672.1:c.3448-17G>C	ENSP00000502446.1:n.3448-17G>C
ENST00000675892.1:c.3214-17G>C	ENSP00000502318.1:n.3214-17G>C
ENST00000676045.1:c.3438-17G>C	ENSP00000501685.1:n.3438-17G>C
ENST00000676176.1:c.3013-17G>C	ENSP00000501891.1:n.3013-17G>C
ENST00000302328.7:c.3394-17G>C	ENSP00000307599.3:n.3394-17G>C
ENST00000444237.2:c.3394-17G>C	ENSP00000408028.2:n.3394-17G>C
ENST00000456224.7:c.3280-17G>C	ENSP00000416757.3:n.3280-17G>C
NM_001287223.1:c.3394-17G>C	NP_001274152.1:n.3394-17G>C
NM_014139.2:c.3394-17G>C	NP_054858.2:n.3394-17G>C
XM_011533320.1:c.3394-17G>C	XP_011531622.1:n.3394-17G>C
XM_011533321.1:c.2731-17G>C	XP_011531623.1:n.2731-17G>C
XM_011533322.1:c.1942-17G>C	XP_011531624.1:n.1942-17G>C
NM_001349253.1:c.3394-17G>C	NP_001336182.1:n.3394-17G>C
XM_011533321.2:c.2731-17G>C	XP_011531623.1:n.2731-17G>C
XM_017005647.1:c.3769-17G>C	XP_016861136.1:n.3769-17G>C
XM_017005648.1:c.3196-17G>C	XP_016861137.1:n.3196-17G>C
XM_017005650.1:c.3394-17G>C	XP_016861139.1:n.3394-17G>C
XM_017005651.1:c.3121-17G>C	XP_016861140.1:n.3121-17G>C
XM_017005652.1:c.3394-17G>C	XP_016861141.1:n.3394-17G>C
XM_017005653.1:c.1798-17G>C	XP_016861142.1:n.1798-17G>C
NM_001349253.2:c.3394-17G>C MANE Select	NP_001336182.1:n.3394-17G>C
NM_014139.3:c.3394-17G>C	NP_054858.2:n.3394-17G>C