Canonical Allele Identifier: CA1943848

Gene: SCN9A SCN1A-AS1

Linked Data

• ClinVar Variation Id: 331962
• ClinVar RCV Id: RCV000262360 ; RCV000277287 ; RCV000311295 ; RCV000319882 ; RCV000369517 ; RCV000647819 ; RCV000372277 ; RCV000368712
• dbSNP Id: rs767624579
• ExAC: 2:167060861 T / TA
• gnomAD v2: 2-167060861-T-TA
• gnomAD v3: 2-166204351-T-TA
• gnomAD v4: 2-166204351-T-TA
• MyVariant Identifiers: chr2:g.167060861_167060862insA (hg19) ; chr2:g.166204351_166204352insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166204351_166204352insA , CM000664.2:g.166204351_166204352insA	GRCh38
NC_000002.11:g.167060861_167060862insA , CM000664.1:g.167060861_167060862insA	GRCh37
NC_000002.10:g.166769107_166769108insA	NCBI36
NG_012798.1:g.176636_176637insT , LRG_369:g.176636_176637insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303354.11:c.4503+8_4503+9insT (SCN9A)	ENSP00000304748.7:n.4503+8_4503+9insT
ENST00000409435.6:c.4503+8_4503+9insT (SCN9A)	ENSP00000386330.2:n.4503+8_4503+9insT
ENST00000642356.2:c.4503+8_4503+9insT (SCN9A) MANE Select	ENSP00000495601.1:n.4503+8_4503+9insT
ENST00000644316.1:c.4347+8_4347+9insT (SCN9A)	ENSP00000493939.1:n.4347+8_4347+9insT
ENST00000645907.1:c.4470+8_4470+9insT (SCN9A)	ENSP00000495983.1:n.4470+8_4470+9insT
ENST00000646694.1:n.880+8_880+9insT (SCN9A)
ENST00000303354.10:c.4503+8_4503+9insT (SCN9A)	ENSP00000304748.7:n.4503+8_4503+9insT
ENST00000409435.5:c.4503+8_4503+9insT (SCN9A)	ENSP00000386330.1:n.4503+8_4503+9insT
ENST00000409672.5:c.4470+8_4470+9insT (SCN9A)	ENSP00000386306.1:n.4470+8_4470+9insT
NM_002977.3:c.4470+8_4470+9insT , LRG_369t1:c.4470+8_4470+9insT (SCN9A)	NP_002968.1:n.4470+8_4470+9insT
NR_110260.1:n.611+4533_611+4534insA (SCN1A-AS1)
XM_005246757.1:c.4503+8_4503+9insT (SCN9A)	XP_005246814.1:n.4503+8_4503+9insT
XM_011511616.1:c.4503+8_4503+9insT (SCN9A)	XP_011509918.1:n.4503+8_4503+9insT
XM_011511617.1:c.4503+8_4503+9insT (SCN9A)	XP_011509919.1:n.4503+8_4503+9insT
XM_011511618.1:c.4470+8_4470+9insT (SCN9A)	XP_011509920.1:n.4470+8_4470+9insT
XM_011511619.1:c.4503+8_4503+9insT (SCN9A)	XP_011509921.1:n.4503+8_4503+9insT
NM_001365536.1:c.4503+8_4503+9insT (SCN9A) MANE Select	NP_001352465.1:n.4503+8_4503+9insT
XM_011511616.3:c.4503+8_4503+9insT (SCN9A)	XP_011509918.1:n.4503+8_4503+9insT
XM_011511617.2:c.4503+8_4503+9insT (SCN9A)	XP_011509919.1:n.4503+8_4503+9insT
XM_011511618.2:c.4470+8_4470+9insT (SCN9A)	XP_011509920.1:n.4470+8_4470+9insT
XM_011511619.2:c.4503+8_4503+9insT (SCN9A)	XP_011509921.1:n.4503+8_4503+9insT
XM_017004668.1:c.4116+8_4116+9insT (SCN9A)	XP_016860157.1:n.4116+8_4116+9insT
XM_017004669.1:c.3759+8_3759+9insT (SCN9A)	XP_016860158.1:n.3759+8_3759+9insT