Canonical Allele Identifier: CA10611584
Gene: SCN9A HGNC NCBI
SCN1A-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 331900
ClinVar RCV Id: RCV000261600 RCV000301676 RCV000341523 RCV000356580
dbSNP Id: rs201730339
gnomAD v3: 2-166195686-A-C
gnomAD v4: 2-166195686-A-C
MyVariant Identifiers: chr2:g.167052196A>C (hg19) chr2:g.166195686A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.166195686A>C , CM000664.2:g.166195686A>C GRCh38
NC_000002.11:g.167052196A>C , CM000664.1:g.167052196A>C GRCh37
NC_000002.10:g.166760442A>C NCBI36
NG_012798.1:g.185302T>G , LRG_369:g.185302T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000303354.11:c.*2986T>G (SCN9A) ENSP00000304748.7:n.*2986T>G
ENST00000642356.2:c.*2986T>G (SCN9A) MANE Select ENSP00000495601.1:n.*2986T>G
ENST00000303354.10:c.*2986T>G (SCN9A) ENSP00000304748.7:n.*2986T>G
ENST00000409672.5:c.*2986T>G (SCN9A) ENSP00000386306.1:n.*2986T>G
NM_002977.3:c.*2986T>G , LRG_369t1:c.*2986T>G (SCN9A) NP_002968.1:n.*2986T>G
NR_110260.1:n.432-3953A>C (SCN1A-AS1)
NM_001365536.1:c.*2986T>G (SCN9A) MANE Select NP_001352465.1:n.*2986T>G
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