Canonical Allele Identifier: CA1046986969

Gene: SCN5A

Linked Data

• gnomAD v3: 3-38551525-A-AGTGTC
• gnomAD v4: 3-38551525-A-AGTGTC

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38551525_38551526insGTGTC , CM000665.2:g.38551525_38551526insGTGTC	GRCh38
NC_000003.11:g.38593016_38593017insGTGTC , CM000665.1:g.38593016_38593017insGTGTC	GRCh37
NC_000003.10:g.38568020_38568021insGTGTC	NCBI36
NG_008934.1:g.103147_103148insGACAC , LRG_289:g.103147_103148insGACAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327956.7:c.4843_4844insGACAC	ENSP00000333674.7:p.Phe1615Ter
ENST00000333535.9:c.4846_4847insGACAC	ENSP00000328968.4:p.Phe1616Ter
ENST00000413689.6:c.4846_4847insGACAC MANE Plus Clinical	ENSP00000410257.1:p.Phe1616Ter
ENST00000423572.7:c.4843_4844insGACAC MANE Select	ENSP00000398266.2:p.Phe1615Ter
ENST00000333535.8:c.4846_4847insGACAC	ENSP00000328968.4:p.Phe1616Ter
ENST00000413689.5:c.4846_4847insGACAC	ENSP00000410257.1:p.Phe1616Ter
ENST00000414099.6:c.4792_4793insGACAC	ENSP00000398962.2:p.Phe1598Ter
ENST00000423572.6:c.4843_4844insGACAC	ENSP00000398266.2:p.Phe1615Ter
ENST00000425664.5:c.4792_4793insGACAC	ENSP00000416634.1:p.Phe1598Ter
ENST00000449557.6:c.4684_4685insGACAC	ENSP00000413996.2:p.Phe1562Ter
ENST00000450102.6:c.4684_4685insGACAC	ENSP00000403355.2:p.Phe1562Ter
ENST00000451551.6:c.4684_4685insGACAC	ENSP00000388797.2:p.Phe1562Ter
ENST00000455624.6:c.4747_4748insGACAC	ENSP00000399524.2:p.Phe1583Ter
NM_000335.4:c.4843_4844insGACAC , LRG_289t2:c.4843_4844insGACAC	NP_000326.2:p.Phe1615Ter
NM_001099404.1:c.4846_4847insGACAC , LRG_289t3:c.4846_4847insGACAC	NP_001092874.1:p.Phe1616Ter
NM_001099405.1:c.4792_4793insGACAC	NP_001092875.1:p.Phe1598Ter
NM_001160160.1:c.4747_4748insGACAC	NP_001153632.1:p.Phe1583Ter
NM_001160161.1:c.4684_4685insGACAC	NP_001153633.1:p.Phe1562Ter
NM_198056.2:c.4846_4847insGACAC , LRG_289t1:c.4846_4847insGACAC	NP_932173.1:p.Phe1616Ter
XM_006713282.2:c.4846_4847insGACAC	XP_006713345.1:p.Phe1616Ter
XM_011533991.1:c.4843_4844insGACAC	XP_011532293.1:p.Phe1615Ter
XM_011533992.1:c.4717_4718insGACAC	XP_011532294.1:p.Phe1573Ter
NM_001354701.1:c.4789_4790insGACAC	NP_001341630.1:p.Phe1597Ter
XM_011533991.2:c.4843_4844insGACAC	XP_011532293.1:p.Phe1615Ter
XM_017007017.1:c.4684_4685insGACAC	XP_016862506.1:p.Phe1562Ter
NM_000335.5:c.4843_4844insGACAC MANE Select	NP_000326.2:p.Phe1615Ter
NM_001160160.2:c.4747_4748insGACAC	NP_001153632.1:p.Phe1583Ter
NM_001354701.2:c.4789_4790insGACAC	NP_001341630.1:p.Phe1597Ter
NM_001099404.2:c.4846_4847insGACAC MANE Plus Clinical	NP_001092874.1:p.Phe1616Ter
NM_001099405.2:c.4792_4793insGACAC	NP_001092875.1:p.Phe1598Ter
NM_001160161.2:c.4684_4685insGACAC	NP_001153633.1:p.Phe1562Ter
NM_198056.3:c.4846_4847insGACAC	NP_932173.1:p.Phe1616Ter