Canonical Allele Identifier: CA2321790

Gene: SCN11A

Linked Data

• ClinVar Variation Id: 2933873
• ClinVar RCV Id: RCV003793431
• dbSNP Id: rs755520986
• ExAC: 3:38913757 A / G
• gnomAD v2: 3-38913757-A-G
• MyVariant Identifiers: chr3:g.38913757A>G (hg19) ; chr3:g.38872266A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38872266A>G , CM000665.2:g.38872266A>G	GRCh38
NC_000003.11:g.38913757A>G , CM000665.1:g.38913757A>G	GRCh37
NC_000003.10:g.38888761A>G	NCBI36
NG_033859.1:g.83296T>C
NG_033859.2:g.184721T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302328.9:c.3422T>C MANE Select	ENSP00000307599.3:p.Met1141Thr
ENST00000668754.1:c.3422T>C	ENSP00000499569.1:p.Met1141Thr
ENST00000675223.1:c.3422T>C	ENSP00000502481.1:p.Met1141Thr
ENST00000675672.1:c.3476T>C	ENSP00000502446.1:n.3476T>C
ENST00000675892.1:c.3242T>C	ENSP00000502318.1:p.Met1081Thr
ENST00000676045.1:c.3466T>C	ENSP00000501685.1:n.3466T>C
ENST00000676176.1:c.3041T>C	ENSP00000501891.1:p.Met1014Thr
ENST00000302328.7:c.3422T>C	ENSP00000307599.3:p.Met1141Thr
ENST00000444237.2:c.3422T>C	ENSP00000408028.2:p.Met1141Thr
ENST00000456224.7:c.3308T>C	ENSP00000416757.3:p.Met1103Thr
NM_001287223.1:c.3422T>C	NP_001274152.1:p.Met1141Thr
NM_014139.2:c.3422T>C	NP_054858.2:p.Met1141Thr
XM_011533320.1:c.3422T>C	XP_011531622.1:p.Met1141Thr
XM_011533321.1:c.2759T>C	XP_011531623.1:p.Met920Thr
XM_011533322.1:c.1970T>C	XP_011531624.1:p.Met657Thr
NM_001349253.1:c.3422T>C	NP_001336182.1:p.Met1141Thr
XM_011533321.2:c.2759T>C	XP_011531623.1:p.Met920Thr
XM_017005647.1:c.3797T>C	XP_016861136.1:p.Met1266Thr
XM_017005648.1:c.3224T>C	XP_016861137.1:p.Met1075Thr
XM_017005650.1:c.3422T>C	XP_016861139.1:p.Met1141Thr
XM_017005651.1:c.3149T>C	XP_016861140.1:p.Met1050Thr
XM_017005652.1:c.3422T>C	XP_016861141.1:p.Met1141Thr
XM_017005653.1:c.1826T>C	XP_016861142.1:p.Met609Thr
NM_001349253.2:c.3422T>C MANE Select	NP_001336182.1:p.Met1141Thr
NM_014139.3:c.3422T>C	NP_054858.2:p.Met1141Thr