Canonical Allele Identifier: CA1038850727

Gene: SCN9A

Linked Data

• gnomAD v3: 2-166303423-C-CAAAAAA
• gnomAD v4: 2-166303423-C-CAAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166303425_166303430dup , CM000664.2:g.166303425_166303430dup	GRCh38
NC_000002.11:g.167159935_167159940dup , CM000664.1:g.167159935_167159940dup	GRCh37
NC_000002.10:g.166868181_166868186dup	NCBI36
NG_012798.1:g.77559_77564dup , LRG_369:g.77559_77564dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303354.11:c.689-127_689-122dup	ENSP00000304748.7:n.689-127_689-122dup
ENST00000409435.6:c.689-127_689-122dup	ENSP00000386330.2:n.689-127_689-122dup
ENST00000452182.2:c.689-127_689-122dup	ENSP00000393141.2:n.689-127_689-122dup
ENST00000454569.6:c.689-127_689-122dup	ENSP00000413212.2:n.689-127_689-122dup
ENST00000472119.2:n.1044-127_1044-122dup
ENST00000642356.2:c.689-127_689-122dup MANE Select	ENSP00000495601.1:n.689-127_689-122dup
ENST00000644316.1:c.689-127_689-122dup	ENSP00000493939.1:n.689-127_689-122dup
ENST00000645815.1:n.60-127_60-122dup
ENST00000645907.1:c.689-127_689-122dup	ENSP00000495983.1:n.689-127_689-122dup
ENST00000303354.10:c.689-127_689-122dup	ENSP00000304748.7:n.689-127_689-122dup
ENST00000409435.5:c.689-127_689-122dup	ENSP00000386330.1:n.689-127_689-122dup
ENST00000409672.5:c.689-127_689-122dup	ENSP00000386306.1:n.689-127_689-122dup
ENST00000452182.1:c.284-127_284-122dup	ENSP00000393141.1:n.284-127_284-122dup
ENST00000454569.5:c.284-127_284-122dup	ENSP00000413212.1:n.284-127_284-122dup
ENST00000472119.1:n.222-127_222-122dup
NM_002977.3:c.689-127_689-122dup , LRG_369t1:c.689-127_689-122dup	NP_002968.1:n.689-127_689-122dup
XM_005246757.1:c.689-127_689-122dup	XP_005246814.1:n.689-127_689-122dup
XM_011511616.1:c.689-127_689-122dup	XP_011509918.1:n.689-127_689-122dup
XM_011511617.1:c.689-127_689-122dup	XP_011509919.1:n.689-127_689-122dup
XM_011511618.1:c.689-127_689-122dup	XP_011509920.1:n.689-127_689-122dup
XM_011511619.1:c.689-127_689-122dup	XP_011509921.1:n.689-127_689-122dup
NM_001365536.1:c.689-127_689-122dup MANE Select	NP_001352465.1:n.689-127_689-122dup
XM_011511616.3:c.689-127_689-122dup	XP_011509918.1:n.689-127_689-122dup
XM_011511617.2:c.689-127_689-122dup	XP_011509919.1:n.689-127_689-122dup
XM_011511618.2:c.689-127_689-122dup	XP_011509920.1:n.689-127_689-122dup
XM_011511619.2:c.689-127_689-122dup	XP_011509921.1:n.689-127_689-122dup
XM_017004668.1:c.302-127_302-122dup	XP_016860157.1:n.302-127_302-122dup
XM_017004669.1:c.-56-127_-56-122dup	XP_016860158.1:n.-56-127_-56-122dup
XR_001738886.1:n.1003-127_1003-122dup