Canonical Allele Identifier: CA1046987104

Gene: SCN5A

Linked Data

• gnomAD v3: 3-38551535-G-GCCA
• gnomAD v4: 3-38551535-G-GCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38551535_38551536insCCA , CM000665.2:g.38551535_38551536insCCA	GRCh38
NC_000003.11:g.38593026_38593027insCCA , CM000665.1:g.38593026_38593027insCCA	GRCh37
NC_000003.10:g.38568030_38568031insCCA	NCBI36
NG_008934.1:g.103137_103138insTGG , LRG_289:g.103137_103138insTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327956.7:c.4833_4834insTGG	ENSP00000333674.7:p.Ile1611_Gln1612insTrp
ENST00000333535.9:c.4836_4837insTGG	ENSP00000328968.4:p.Ile1612_Gln1613insTrp
ENST00000413689.6:c.4836_4837insTGG MANE Plus Clinical	ENSP00000410257.1:p.Ile1612_Gln1613insTrp
ENST00000423572.7:c.4833_4834insTGG MANE Select	ENSP00000398266.2:p.Ile1611_Gln1612insTrp
ENST00000333535.8:c.4836_4837insTGG	ENSP00000328968.4:p.Ile1612_Gln1613insTrp
ENST00000413689.5:c.4836_4837insTGG	ENSP00000410257.1:p.Ile1612_Gln1613insTrp
ENST00000414099.6:c.4782_4783insTGG	ENSP00000398962.2:p.Ile1594_Gln1595insTrp
ENST00000423572.6:c.4833_4834insTGG	ENSP00000398266.2:p.Ile1611_Gln1612insTrp
ENST00000425664.5:c.4782_4783insTGG	ENSP00000416634.1:p.Ile1594_Gln1595insTrp
ENST00000449557.6:c.4674_4675insTGG	ENSP00000413996.2:p.Ile1558_Gln1559insTrp
ENST00000450102.6:c.4674_4675insTGG	ENSP00000403355.2:p.Ile1558_Gln1559insTrp
ENST00000451551.6:c.4674_4675insTGG	ENSP00000388797.2:p.Ile1558_Gln1559insTrp
ENST00000455624.6:c.4737_4738insTGG	ENSP00000399524.2:p.Ile1579_Gln1580insTrp
NM_000335.4:c.4833_4834insTGG , LRG_289t2:c.4833_4834insTGG	NP_000326.2:p.Ile1611_Gln1612insTrp
NM_001099404.1:c.4836_4837insTGG , LRG_289t3:c.4836_4837insTGG	NP_001092874.1:p.Ile1612_Gln1613insTrp
NM_001099405.1:c.4782_4783insTGG	NP_001092875.1:p.Ile1594_Gln1595insTrp
NM_001160160.1:c.4737_4738insTGG	NP_001153632.1:p.Ile1579_Gln1580insTrp
NM_001160161.1:c.4674_4675insTGG	NP_001153633.1:p.Ile1558_Gln1559insTrp
NM_198056.2:c.4836_4837insTGG , LRG_289t1:c.4836_4837insTGG	NP_932173.1:p.Ile1612_Gln1613insTrp
XM_006713282.2:c.4836_4837insTGG	XP_006713345.1:p.Ile1612_Gln1613insTrp
XM_011533991.1:c.4833_4834insTGG	XP_011532293.1:p.Ile1611_Gln1612insTrp
XM_011533992.1:c.4707_4708insTGG	XP_011532294.1:p.Ile1569_Gln1570insTrp
NM_001354701.1:c.4779_4780insTGG	NP_001341630.1:p.Ile1593_Gln1594insTrp
XM_011533991.2:c.4833_4834insTGG	XP_011532293.1:p.Ile1611_Gln1612insTrp
XM_017007017.1:c.4674_4675insTGG	XP_016862506.1:p.Ile1558_Gln1559insTrp
NM_000335.5:c.4833_4834insTGG MANE Select	NP_000326.2:p.Ile1611_Gln1612insTrp
NM_001160160.2:c.4737_4738insTGG	NP_001153632.1:p.Ile1579_Gln1580insTrp
NM_001354701.2:c.4779_4780insTGG	NP_001341630.1:p.Ile1593_Gln1594insTrp
NM_001099404.2:c.4836_4837insTGG MANE Plus Clinical	NP_001092874.1:p.Ile1612_Gln1613insTrp
NM_001099405.2:c.4782_4783insTGG	NP_001092875.1:p.Ile1594_Gln1595insTrp
NM_001160161.2:c.4674_4675insTGG	NP_001153633.1:p.Ile1558_Gln1559insTrp
NM_198056.3:c.4836_4837insTGG	NP_932173.1:p.Ile1612_Gln1613insTrp