Canonical Allele Identifier: CA16610170
Gene: SCN9A HGNC NCBI
SCN1A-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 408574
ClinVar RCV Id: RCV000467475
dbSNP Id: rs1060502047
MyVariant Identifiers: chr2:g.167055273T>G (hg19) chr2:g.166198763T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.166198763T>G , CM000664.2:g.166198763T>G GRCh38
NC_000002.11:g.167055273T>G , CM000664.1:g.167055273T>G GRCh37
NC_000002.10:g.166763519T>G NCBI36
NG_012798.1:g.182225A>C , LRG_369:g.182225A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000303354.11:c.5876A>C (SCN9A) ENSP00000304748.7:p.Asp1959Ala
ENST00000409435.6:c.5876A>C (SCN9A) ENSP00000386330.2:p.Asp1959Ala
ENST00000642356.2:c.5876A>C (SCN9A) MANE Select ENSP00000495601.1:p.Asp1959Ala
ENST00000644316.1:c.5720A>C (SCN9A) ENSP00000493939.1:p.Asp1907Ala
ENST00000645907.1:c.5843A>C (SCN9A) ENSP00000495983.1:p.Asp1948Ala
ENST00000646694.1:n.2253A>C (SCN9A)
ENST00000303354.10:c.5876A>C (SCN9A) ENSP00000304748.7:p.Asp1959Ala
ENST00000409435.5:c.5876A>C (SCN9A) ENSP00000386330.1:p.Asp1959Ala
ENST00000409672.5:c.5843A>C (SCN9A) ENSP00000386306.1:p.Asp1948Ala
NM_002977.3:c.5843A>C , LRG_369t1:c.5843A>C (SCN9A) NP_002968.1:p.Asp1948Ala
NR_110260.1:n.432-876T>G (SCN1A-AS1)
XM_005246757.1:c.5876A>C (SCN9A) XP_005246814.1:p.Asp1959Ala
XM_011511616.1:c.5876A>C (SCN9A) XP_011509918.1:p.Asp1959Ala
XM_011511617.1:c.5876A>C (SCN9A) XP_011509919.1:p.Asp1959Ala
XM_011511618.1:c.5843A>C (SCN9A) XP_011509920.1:p.Asp1948Ala
NM_001365536.1:c.5876A>C (SCN9A) MANE Select NP_001352465.1:p.Asp1959Ala
XM_011511616.3:c.5876A>C (SCN9A) XP_011509918.1:p.Asp1959Ala
XM_011511617.2:c.5876A>C (SCN9A) XP_011509919.1:p.Asp1959Ala
XM_011511618.2:c.5843A>C (SCN9A) XP_011509920.1:p.Asp1948Ala
XM_017004668.1:c.5489A>C (SCN9A) XP_016860157.1:p.Asp1830Ala
XM_017004669.1:c.5132A>C (SCN9A) XP_016860158.1:p.Asp1711Ala
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