Canonical Allele Identifier: CA1304943690
Gene: SCN9A HGNC NCBI
SCN1A-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.166228873A= , CM000664.2:g.166228873A= GRCh38
NC_000002.11:g.167085383A= , CM000664.1:g.167085383A= GRCh37
NC_000002.10:g.166793629A= NCBI36
NG_012798.1:g.152115T= , LRG_369:g.152115T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000303354.11:c.4024T= (SCN9A) ENSP00000304748.7:p.Leu1342=
ENST00000409435.6:c.4024T= (SCN9A) ENSP00000386330.2:p.Leu1342=
ENST00000642356.2:c.4024T= (SCN9A) MANE Select ENSP00000495601.1:p.Leu1342=
ENST00000644316.1:c.3868T= (SCN9A) ENSP00000493939.1:p.Leu1290=
ENST00000645907.1:c.3991T= (SCN9A) ENSP00000495983.1:p.Leu1331=
ENST00000303354.10:c.4024T= (SCN9A) ENSP00000304748.7:p.Leu1342=
ENST00000409435.5:c.4024T= (SCN9A) ENSP00000386330.1:p.Leu1342=
ENST00000409672.5:c.3991T= (SCN9A) ENSP00000386306.1:p.Leu1331=
NM_002977.3:c.3991T= , LRG_369t1:c.3991T= (SCN9A) NP_002968.1:p.Leu1331=
NR_110260.1:n.612-19322A= (SCN1A-AS1)
XM_005246757.1:c.4024T= (SCN9A) XP_005246814.1:p.Leu1342=
XM_011511616.1:c.4024T= (SCN9A) XP_011509918.1:p.Leu1342=
XM_011511617.1:c.4024T= (SCN9A) XP_011509919.1:p.Leu1342=
XM_011511618.1:c.3991T= (SCN9A) XP_011509920.1:p.Leu1331=
XM_011511619.1:c.4024T= (SCN9A) XP_011509921.1:p.Leu1342=
NM_001365536.1:c.4024T= (SCN9A) MANE Select NP_001352465.1:p.Leu1342=
XM_011511616.3:c.4024T= (SCN9A) XP_011509918.1:p.Leu1342=
XM_011511617.2:c.4024T= (SCN9A) XP_011509919.1:p.Leu1342=
XM_011511618.2:c.3991T= (SCN9A) XP_011509920.1:p.Leu1331=
XM_011511619.2:c.4024T= (SCN9A) XP_011509921.1:p.Leu1342=
XM_017004668.1:c.3637T= (SCN9A) XP_016860157.1:p.Leu1213=
XM_017004669.1:c.3280T= (SCN9A) XP_016860158.1:p.Leu1094=