Canonical Allele Identifier: CA349085959
Gene: SCN9A HGNC NCBI
SCN1A-AS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.166288573A>G , CM000664.2:g.166288573A>G GRCh38
NC_000002.11:g.167145083A>G , CM000664.1:g.167145083A>G GRCh37
NC_000002.10:g.166853329A>G NCBI36
NG_012798.1:g.92415T>C , LRG_369:g.92415T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000303354.11:c.1178T>C (SCN9A) ENSP00000304748.7:p.Leu393Pro
ENST00000409435.6:c.1178T>C (SCN9A) ENSP00000386330.2:p.Leu393Pro
ENST00000454569.6:c.1178T>C (SCN9A) ENSP00000413212.2:p.Leu393Pro
ENST00000642356.2:c.1178T>C (SCN9A) MANE Select ENSP00000495601.1:p.Leu393Pro
ENST00000644316.1:c.1178T>C (SCN9A) ENSP00000493939.1:p.Leu393Pro
ENST00000645907.1:c.1178T>C (SCN9A) ENSP00000495983.1:p.Leu393Pro
ENST00000667201.2:c.213T>C (SCN9A)
ENST00000303354.10:c.1178T>C (SCN9A) ENSP00000304748.7:p.Leu393Pro
ENST00000409435.5:c.1178T>C (SCN9A) ENSP00000386330.1:p.Leu393Pro
ENST00000409672.5:c.1178T>C (SCN9A) ENSP00000386306.1:p.Leu393Pro
ENST00000452182.1:c.773T>C (SCN9A) ENSP00000393141.1:p.Leu258Pro
ENST00000454569.5:c.773T>C (SCN9A) ENSP00000413212.1:p.Leu258Pro
NM_002977.3:c.1178T>C , LRG_369t1:c.1178T>C (SCN9A) NP_002968.1:p.Leu393Pro
NR_110260.1:n.1030-5992A>G (SCN1A-AS1)
XM_005246757.1:c.1178T>C (SCN9A) XP_005246814.1:p.Leu393Pro
XM_011511616.1:c.1178T>C (SCN9A) XP_011509918.1:p.Leu393Pro
XM_011511617.1:c.1178T>C (SCN9A) XP_011509919.1:p.Leu393Pro
XM_011511618.1:c.1178T>C (SCN9A) XP_011509920.1:p.Leu393Pro
XM_011511619.1:c.1178T>C (SCN9A) XP_011509921.1:p.Leu393Pro
NM_001365536.1:c.1178T>C (SCN9A) MANE Select NP_001352465.1:p.Leu393Pro
XM_011511616.3:c.1178T>C (SCN9A) XP_011509918.1:p.Leu393Pro
XM_011511617.2:c.1178T>C (SCN9A) XP_011509919.1:p.Leu393Pro
XM_011511618.2:c.1178T>C (SCN9A) XP_011509920.1:p.Leu393Pro
XM_011511619.2:c.1178T>C (SCN9A) XP_011509921.1:p.Leu393Pro
XM_017004668.1:c.791T>C (SCN9A) XP_016860157.1:p.Leu264Pro
XM_017004669.1:c.434T>C (SCN9A) XP_016860158.1:p.Leu145Pro
XR_001738886.1:n.1492T>C (SCN9A)