Canonical Allele Identifier: CA913188110

Gene: SCN5A

Linked Data

• ClinVar Variation Id: 927012
• ClinVar RCV Id: RCV001256853 ; RCV001841098 ; RCV004017796
• dbSNP Id: rs2061267874

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38562420_38562427dup , CM000665.2:g.38562420_38562427dup	GRCh38
NC_000003.11:g.38603911_38603918dup , CM000665.1:g.38603911_38603918dup	GRCh37
NC_000003.10:g.38578915_38578922dup	NCBI36
NG_008934.1:g.92252_92259dup , LRG_289:g.92252_92259dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327956.7:c.3954_3960+1dup
ENST00000333535.9:c.3957_3963+1dup
ENST00000413689.6:c.3957_3963+1dup
ENST00000423572.7:c.3954_3960+1dup
ENST00000333535.8:c.3957_3963+1dup
ENST00000413689.5:c.3957_3963+1dup
ENST00000414099.6:c.3957_3963+1dup
ENST00000423572.6:c.3954_3960+1dup
ENST00000425664.5:c.3957_3963+1dup
ENST00000449557.6:c.3795_3801+1dup
ENST00000450102.6:c.3795_3801+1dup
ENST00000451551.6:c.3795_3801+1dup
ENST00000455624.6:c.3954_3960+1dup
NM_000335.4:c.3954_3960+1dup , LRG_289t2:c.3954_3960+1dup
NM_001099404.1:c.3957_3963+1dup , LRG_289t3:c.3957_3963+1dup
NM_001099405.1:c.3957_3963+1dup
NM_001160160.1:c.3954_3960+1dup
NM_001160161.1:c.3795_3801+1dup
NM_198056.2:c.3957_3963+1dup , LRG_289t1:c.3957_3963+1dup
XM_006713282.2:c.3957_3963+1dup
XM_011533991.1:c.3954_3960+1dup
XM_011533992.1:c.3828_3834+1dup
NM_001354701.1:c.3954_3960+1dup
XM_011533991.2:c.3954_3960+1dup
XM_017007017.1:c.3795_3801+1dup
NM_000335.5:c.3954_3960+1dup
NM_001160160.2:c.3954_3960+1dup
NM_001354701.2:c.3954_3960+1dup
NM_001099404.2:c.3957_3963+1dup
NM_001099405.2:c.3957_3963+1dup
NM_001160161.2:c.3795_3801+1dup
NM_198056.3:c.3957_3963+1dup