Canonical Allele Identifier: CA10611605
Gene: SCN9A HGNC NCBI
SCN1A-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 331929
ClinVar RCV Id: RCV000278700 RCV000283097 RCV000336059 RCV000342817 RCV000377497 RCV000378814 RCV000397622
dbSNP Id: rs200091138
gnomAD v2: 2-167053575-TTA-T
gnomAD v3: 2-166197065-TTA-T
gnomAD v4: 2-166197065-TTA-T
MyVariant Identifiers: chr2:g.167053576_167053577del (hg19) chr2:g.166197066_166197067del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.166197067_166197068del , CM000664.2:g.166197067_166197068del GRCh38
NC_000002.11:g.167053577_167053578del , CM000664.1:g.167053577_167053578del GRCh37
NC_000002.10:g.166761823_166761824del NCBI36
NG_012798.1:g.183921_183922del , LRG_369:g.183921_183922del

Transcript Alleles

HGVS Amino-acid Change
ENST00000303354.11:c.*1605_*1606del (SCN9A) ENSP00000304748.7:n.*1605_*1606del
ENST00000642356.2:c.*1605_*1606del (SCN9A) MANE Select ENSP00000495601.1:n.*1605_*1606del
ENST00000303354.10:c.*1605_*1606del (SCN9A) ENSP00000304748.7:n.*1605_*1606del
ENST00000409672.5:c.*1605_*1606del (SCN9A) ENSP00000386306.1:n.*1605_*1606del
NM_002977.3:c.*1605_*1606del , LRG_369t1:c.*1605_*1606del (SCN9A) NP_002968.1:n.*1605_*1606del
NR_110260.1:n.432-2572_432-2571del (SCN1A-AS1)
NM_001365536.1:c.*1605_*1606del (SCN9A) MANE Select NP_001352465.1:n.*1605_*1606del
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