Canonical Allele Identifier: CA542283890

Gene: SCN11A

Linked Data

• dbSNP Id: rs1330382776
• gnomAD v2: 3-38913526-G-C
• gnomAD v3: 3-38872035-G-C
• gnomAD v4: 3-38872035-G-C
• MyVariant Identifiers: chr3:g.38913526G>C (hg19) ; chr3:g.38872035G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38872035G>C , CM000665.2:g.38872035G>C	GRCh38
NC_000003.11:g.38913526G>C , CM000665.1:g.38913526G>C	GRCh37
NC_000003.10:g.38888530G>C	NCBI36
NG_033859.1:g.83527C>G
NG_033859.2:g.184952C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302328.9:c.3495+158C>G MANE Select	ENSP00000307599.3:n.3495+158C>G
ENST00000668754.1:c.3495+158C>G	ENSP00000499569.1:n.3495+158C>G
ENST00000675223.1:c.3495+158C>G	ENSP00000502481.1:n.3495+158C>G
ENST00000675672.1:c.3549+158C>G	ENSP00000502446.1:n.3549+158C>G
ENST00000675892.1:c.3315+158C>G	ENSP00000502318.1:n.3315+158C>G
ENST00000676045.1:c.3539+158C>G	ENSP00000501685.1:n.3539+158C>G
ENST00000676176.1:c.3114+158C>G	ENSP00000501891.1:n.3114+158C>G
ENST00000302328.7:c.3495+158C>G	ENSP00000307599.3:n.3495+158C>G
ENST00000444237.2:c.3495+158C>G	ENSP00000408028.2:n.3495+158C>G
ENST00000456224.7:c.3381+158C>G	ENSP00000416757.3:n.3381+158C>G
NM_001287223.1:c.3495+158C>G	NP_001274152.1:n.3495+158C>G
NM_014139.2:c.3495+158C>G	NP_054858.2:n.3495+158C>G
XM_011533320.1:c.3495+158C>G	XP_011531622.1:n.3495+158C>G
XM_011533321.1:c.2832+158C>G	XP_011531623.1:n.2832+158C>G
XM_011533322.1:c.2043+158C>G	XP_011531624.1:n.2043+158C>G
NM_001349253.1:c.3495+158C>G	NP_001336182.1:n.3495+158C>G
XM_011533321.2:c.2832+158C>G	XP_011531623.1:n.2832+158C>G
XM_017005647.1:c.3870+158C>G	XP_016861136.1:n.3870+158C>G
XM_017005648.1:c.3297+158C>G	XP_016861137.1:n.3297+158C>G
XM_017005650.1:c.3495+158C>G	XP_016861139.1:n.3495+158C>G
XM_017005651.1:c.3222+158C>G	XP_016861140.1:n.3222+158C>G
XM_017005652.1:c.3495+158C>G	XP_016861141.1:n.3495+158C>G
XM_017005653.1:c.1899+158C>G	XP_016861142.1:n.1899+158C>G
NM_001349253.2:c.3495+158C>G MANE Select	NP_001336182.1:n.3495+158C>G
NM_014139.3:c.3495+158C>G	NP_054858.2:n.3495+158C>G