Canonical Allele Identifier: CA433134342

Gene: SCN5A

Linked Data

• gnomAD v4: 3-38551530-C-T
• MyVariant Identifiers: chr3:g.38593021C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38551530C>T , CM000665.2:g.38551530C>T	GRCh38
NC_000003.11:g.38593021C>T , CM000665.1:g.38593021C>T	GRCh37
NC_000003.10:g.38568025C>T	NCBI36
NG_008934.1:g.103143G>A , LRG_289:g.103143G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327956.7:c.4839G>A	ENSP00000333674.7:p.Lys1613=
ENST00000333535.9:c.4842G>A	ENSP00000328968.4:p.Lys1614=
ENST00000413689.6:c.4842G>A MANE Plus Clinical	ENSP00000410257.1:p.Lys1614=
ENST00000423572.7:c.4839G>A MANE Select	ENSP00000398266.2:p.Lys1613=
ENST00000333535.8:c.4842G>A	ENSP00000328968.4:p.Lys1614=
ENST00000413689.5:c.4842G>A	ENSP00000410257.1:p.Lys1614=
ENST00000414099.6:c.4788G>A	ENSP00000398962.2:p.Lys1596=
ENST00000423572.6:c.4839G>A	ENSP00000398266.2:p.Lys1613=
ENST00000425664.5:c.4788G>A	ENSP00000416634.1:p.Lys1596=
ENST00000449557.6:c.4680G>A	ENSP00000413996.2:p.Lys1560=
ENST00000450102.6:c.4680G>A	ENSP00000403355.2:p.Lys1560=
ENST00000451551.6:c.4680G>A	ENSP00000388797.2:p.Lys1560=
ENST00000455624.6:c.4743G>A	ENSP00000399524.2:p.Lys1581=
NM_000335.4:c.4839G>A , LRG_289t2:c.4839G>A	NP_000326.2:p.Lys1613=
NM_001099404.1:c.4842G>A , LRG_289t3:c.4842G>A	NP_001092874.1:p.Lys1614=
NM_001099405.1:c.4788G>A	NP_001092875.1:p.Lys1596=
NM_001160160.1:c.4743G>A	NP_001153632.1:p.Lys1581=
NM_001160161.1:c.4680G>A	NP_001153633.1:p.Lys1560=
NM_198056.2:c.4842G>A , LRG_289t1:c.4842G>A	NP_932173.1:p.Lys1614=
XM_006713282.2:c.4842G>A	XP_006713345.1:p.Lys1614=
XM_011533991.1:c.4839G>A	XP_011532293.1:p.Lys1613=
XM_011533992.1:c.4713G>A	XP_011532294.1:p.Lys1571=
NM_001354701.1:c.4785G>A	NP_001341630.1:p.Lys1595=
XM_011533991.2:c.4839G>A	XP_011532293.1:p.Lys1613=
XM_017007017.1:c.4680G>A	XP_016862506.1:p.Lys1560=
NM_000335.5:c.4839G>A MANE Select	NP_000326.2:p.Lys1613=
NM_001160160.2:c.4743G>A	NP_001153632.1:p.Lys1581=
NM_001354701.2:c.4785G>A	NP_001341630.1:p.Lys1595=
NM_001099404.2:c.4842G>A MANE Plus Clinical	NP_001092874.1:p.Lys1614=
NM_001099405.2:c.4788G>A	NP_001092875.1:p.Lys1596=
NM_001160161.2:c.4680G>A	NP_001153633.1:p.Lys1560=
NM_198056.3:c.4842G>A	NP_932173.1:p.Lys1614=