Canonical Allele Identifier: CA349058419
Gene: SCN9A HGNC NCBI
SCN1A-AS1 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.166204448A>T , CM000664.2:g.166204448A>T GRCh38
NC_000002.11:g.167060958A>T , CM000664.1:g.167060958A>T GRCh37
NC_000002.10:g.166769204A>T NCBI36
NG_012798.1:g.176540T>A , LRG_369:g.176540T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000303354.11:c.4415T>A (SCN9A) ENSP00000304748.7:p.Ile1472Asn
ENST00000409435.6:c.4415T>A (SCN9A) ENSP00000386330.2:p.Ile1472Asn
ENST00000642356.2:c.4415T>A (SCN9A) MANE Select ENSP00000495601.1:p.Ile1472Asn
ENST00000644316.1:c.4259T>A (SCN9A) ENSP00000493939.1:p.Ile1420Asn
ENST00000645907.1:c.4382T>A (SCN9A) ENSP00000495983.1:p.Ile1461Asn
ENST00000646694.1:n.792T>A (SCN9A)
ENST00000303354.10:c.4415T>A (SCN9A) ENSP00000304748.7:p.Ile1472Asn
ENST00000409435.5:c.4415T>A (SCN9A) ENSP00000386330.1:p.Ile1472Asn
ENST00000409672.5:c.4382T>A (SCN9A) ENSP00000386306.1:p.Ile1461Asn
NM_002977.3:c.4382T>A , LRG_369t1:c.4382T>A (SCN9A) NP_002968.1:p.Ile1461Asn
NR_110260.1:n.611+4630A>T (SCN1A-AS1)
XM_005246757.1:c.4415T>A (SCN9A) XP_005246814.1:p.Ile1472Asn
XM_011511616.1:c.4415T>A (SCN9A) XP_011509918.1:p.Ile1472Asn
XM_011511617.1:c.4415T>A (SCN9A) XP_011509919.1:p.Ile1472Asn
XM_011511618.1:c.4382T>A (SCN9A) XP_011509920.1:p.Ile1461Asn
XM_011511619.1:c.4415T>A (SCN9A) XP_011509921.1:p.Ile1472Asn
NM_001365536.1:c.4415T>A (SCN9A) MANE Select NP_001352465.1:p.Ile1472Asn
XM_011511616.3:c.4415T>A (SCN9A) XP_011509918.1:p.Ile1472Asn
XM_011511617.2:c.4415T>A (SCN9A) XP_011509919.1:p.Ile1472Asn
XM_011511618.2:c.4382T>A (SCN9A) XP_011509920.1:p.Ile1461Asn
XM_011511619.2:c.4415T>A (SCN9A) XP_011509921.1:p.Ile1472Asn
XM_017004668.1:c.4028T>A (SCN9A) XP_016860157.1:p.Ile1343Asn
XM_017004669.1:c.3671T>A (SCN9A) XP_016860158.1:p.Ile1224Asn