Canonical Allele Identifier: CA1943956
Gene: SCN9A HGNC NCBI
SCN1A-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1054031
ClinVar RCV Id: RCV001362469 RCV002377516
dbSNP Id: rs372650944
ExAC: 2:167085337 G / A
gnomAD v2: 2-167085337-G-A
gnomAD v3: 2-166228827-G-A
gnomAD v4: 2-166228827-G-A
MyVariant Identifiers: chr2:g.167085337G>A (hg19) chr2:g.166228827G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.166228827G>A , CM000664.2:g.166228827G>A GRCh38
NC_000002.11:g.167085337G>A , CM000664.1:g.167085337G>A GRCh37
NC_000002.10:g.166793583G>A NCBI36
NG_012798.1:g.152161C>T , LRG_369:g.152161C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000303354.11:c.4070C>T (SCN9A) ENSP00000304748.7:p.Ser1357Leu
ENST00000409435.6:c.4070C>T (SCN9A) ENSP00000386330.2:p.Ser1357Leu
ENST00000642356.2:c.4070C>T (SCN9A) MANE Select ENSP00000495601.1:p.Ser1357Leu
ENST00000644316.1:c.3914C>T (SCN9A) ENSP00000493939.1:p.Ser1305Leu
ENST00000645907.1:c.4037C>T (SCN9A) ENSP00000495983.1:p.Ser1346Leu
ENST00000303354.10:c.4070C>T (SCN9A) ENSP00000304748.7:p.Ser1357Leu
ENST00000409435.5:c.4070C>T (SCN9A) ENSP00000386330.1:p.Ser1357Leu
ENST00000409672.5:c.4037C>T (SCN9A) ENSP00000386306.1:p.Ser1346Leu
NM_002977.3:c.4037C>T , LRG_369t1:c.4037C>T (SCN9A) NP_002968.1:p.Ser1346Leu
NR_110260.1:n.612-19368G>A (SCN1A-AS1)
XM_005246757.1:c.4070C>T (SCN9A) XP_005246814.1:p.Ser1357Leu
XM_011511616.1:c.4070C>T (SCN9A) XP_011509918.1:p.Ser1357Leu
XM_011511617.1:c.4070C>T (SCN9A) XP_011509919.1:p.Ser1357Leu
XM_011511618.1:c.4037C>T (SCN9A) XP_011509920.1:p.Ser1346Leu
XM_011511619.1:c.4070C>T (SCN9A) XP_011509921.1:p.Ser1357Leu
NM_001365536.1:c.4070C>T (SCN9A) MANE Select NP_001352465.1:p.Ser1357Leu
XM_011511616.3:c.4070C>T (SCN9A) XP_011509918.1:p.Ser1357Leu
XM_011511617.2:c.4070C>T (SCN9A) XP_011509919.1:p.Ser1357Leu
XM_011511618.2:c.4037C>T (SCN9A) XP_011509920.1:p.Ser1346Leu
XM_011511619.2:c.4070C>T (SCN9A) XP_011509921.1:p.Ser1357Leu
XM_017004668.1:c.3683C>T (SCN9A) XP_016860157.1:p.Ser1228Leu
XM_017004669.1:c.3326C>T (SCN9A) XP_016860158.1:p.Ser1109Leu
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