Canonical Allele Identifier: CA10612526
Gene: SCN9A HGNC NCBI

Linked Data

ClinVar Variation Id: 331968
dbSNP Id: rs886055052

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.166238141T>C , CM000664.2:g.166238141T>C GRCh38
NC_000002.11:g.167094651T>C , CM000664.1:g.167094651T>C GRCh37
NC_000002.10:g.166802897T>C NCBI36
NG_012798.1:g.142847A>G , LRG_369:g.142847A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000303354.11:c.3754A>G ENSP00000304748.7:p.Thr1252Ala
ENST00000409435.6:n.3754A>G ENSP00000386330.2:p.Thr1252Ala
ENST00000642356.2:c.3754A>G MANE Select ENSP00000495601.1:p.Thr1252Ala
ENST00000644316.1:n.3721A>G ENSP00000493939.1:p.Thr1241Ala
ENST00000645907.1:c.3721A>G ENSP00000495983.1:p.Thr1241Ala
ENST00000303354.10:c.3754A>G ENSP00000304748.7:p.Thr1252Ala
ENST00000409435.5:n.3754A>G ENSP00000386330.1:p.Thr1252Ala
ENST00000409672.5:c.3721A>G ENSP00000386306.1:p.Thr1241Ala
NM_002977.3:c.3721A>G , LRG_369t1:c.3721A>G NP_002968.1:p.Thr1241Ala
NR_110260.1:n.612-10054T>C
XM_005246757.1:c.3754A>G XP_005246814.1:p.Thr1252Ala
XM_011511616.1:c.3754A>G XP_011509918.1:p.Thr1252Ala
XM_011511617.1:c.3754A>G XP_011509919.1:p.Thr1252Ala
XM_011511618.1:c.3721A>G XP_011509920.1:p.Thr1241Ala
XM_011511619.1:c.3754A>G XP_011509921.1:p.Thr1252Ala
NM_001365536.1:c.3754A>G MANE Select NP_001352465.1:p.Thr1252Ala
XM_011511616.3:c.3754A>G XP_011509918.1:p.Thr1252Ala
XM_011511617.2:c.3754A>G XP_011509919.1:p.Thr1252Ala
XM_011511618.2:c.3721A>G XP_011509920.1:p.Thr1241Ala
XM_011511619.2:c.3754A>G XP_011509921.1:p.Thr1252Ala
XM_017004668.1:c.3367A>G XP_016860157.1:p.Thr1123Ala
XM_017004669.1:c.3010A>G XP_016860158.1:p.Thr1004Ala