Canonical Allele Identifier: CA16610280
Gene: SCN9A HGNC NCBI
SCN1A-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 408578
ClinVar RCV Id: RCV000477516
dbSNP Id: rs1060502048
MyVariant Identifiers: chr2:g.167136871T>C (hg19) chr2:g.166280361T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.166280361T>C , CM000664.2:g.166280361T>C GRCh38
NC_000002.11:g.167136871T>C , CM000664.1:g.167136871T>C GRCh37
NC_000002.10:g.166845117T>C NCBI36
NG_012798.1:g.100627A>G , LRG_369:g.100627A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000303354.11:c.2339A>G (SCN9A) ENSP00000304748.7:p.Asn780Ser
ENST00000409435.6:c.2339A>G (SCN9A) ENSP00000386330.2:p.Asn780Ser
ENST00000454569.6:c.2306A>G (SCN9A) ENSP00000413212.2:p.Asn769Ser
ENST00000642356.2:c.2339A>G (SCN9A) MANE Select ENSP00000495601.1:p.Asn780Ser
ENST00000644316.1:c.2306A>G (SCN9A) ENSP00000493939.1:p.Asn769Ser
ENST00000645907.1:c.2306A>G (SCN9A) ENSP00000495983.1:p.Asn769Ser
ENST00000667201.2:c.1341A>G (SCN9A)
ENST00000303354.10:c.2339A>G (SCN9A) ENSP00000304748.7:p.Asn780Ser
ENST00000409435.5:c.2339A>G (SCN9A) ENSP00000386330.1:p.Asn780Ser
ENST00000409672.5:c.2306A>G (SCN9A) ENSP00000386306.1:p.Asn769Ser
NM_002977.3:c.2306A>G , LRG_369t1:c.2306A>G (SCN9A) NP_002968.1:p.Asn769Ser
NR_110260.1:n.1029+3114T>C (SCN1A-AS1)
XM_005246757.1:c.2339A>G (SCN9A) XP_005246814.1:p.Asn780Ser
XM_011511616.1:c.2339A>G (SCN9A) XP_011509918.1:p.Asn780Ser
XM_011511617.1:c.2339A>G (SCN9A) XP_011509919.1:p.Asn780Ser
XM_011511618.1:c.2306A>G (SCN9A) XP_011509920.1:p.Asn769Ser
XM_011511619.1:c.2339A>G (SCN9A) XP_011509921.1:p.Asn780Ser
NM_001365536.1:c.2339A>G (SCN9A) MANE Select NP_001352465.1:p.Asn780Ser
XM_011511616.3:c.2339A>G (SCN9A) XP_011509918.1:p.Asn780Ser
XM_011511617.2:c.2339A>G (SCN9A) XP_011509919.1:p.Asn780Ser
XM_011511618.2:c.2306A>G (SCN9A) XP_011509920.1:p.Asn769Ser
XM_011511619.2:c.2339A>G (SCN9A) XP_011509921.1:p.Asn780Ser
XM_017004668.1:c.1952A>G (SCN9A) XP_016860157.1:p.Asn651Ser
XM_017004669.1:c.1595A>G (SCN9A) XP_016860158.1:p.Asn532Ser
XR_001738886.1:n.2653A>G (SCN9A)
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