Canonical Allele Identifier: CA085295

Gene: SCN5A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.[38551513G>A;38566555G>A] , CM000665.2:g.[38551513G>A;38566555G>A]	GRCh38
NC_000003.11:g.[38593004G>A;38608046G>A] , CM000665.1:g.[38593004G>A;38608046G>A]	GRCh37
NC_000003.10:g.[38568008G>A;38583050G>A]	NCBI36
NG_008934.1:g.[88118C>T;103160C>T] , LRG_289:g.[88118C>T;103160C>T]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327956.7:c.[3691C>T;4856C>T]	ENSP00000333674.7:p.[Arg1231Trp;Thr1619Met]
ENST00000333535.9:c.[3694C>T;4859C>T]	ENSP00000328968.4:p.[Arg1232Trp;Thr1620Met]
ENST00000413689.6:c.[3694C>T;4859C>T] MANE Plus Clinical	ENSP00000410257.1:p.[Arg1232Trp;Thr1620Met]
ENST00000423572.7:c.[3691C>T;4856C>T] MANE Select	ENSP00000398266.2:p.[Arg1231Trp;Thr1619Met]
ENST00000333535.8:c.[3694C>T;4859C>T]	ENSP00000328968.4:p.[Arg1232Trp;Thr1620Met]
ENST00000413689.5:c.[3694C>T;4859C>T]	ENSP00000410257.1:p.[Arg1232Trp;Thr1620Met]
ENST00000414099.6:c.[3694C>T;4805C>T]	ENSP00000398962.2:p.[Arg1232Trp;Thr1602Met]
ENST00000423572.6:c.[3691C>T;4856C>T]	ENSP00000398266.2:p.[Arg1231Trp;Thr1619Met]
ENST00000425664.5:c.[3694C>T;4805C>T]	ENSP00000416634.1:p.[Arg1232Trp;Thr1602Met]
ENST00000449557.6:c.[3532C>T;4697C>T]	ENSP00000413996.2:p.[Arg1178Trp;Thr1566Met]
ENST00000450102.6:c.[3532C>T;4697C>T]	ENSP00000403355.2:p.[Arg1178Trp;Thr1566Met]
ENST00000451551.6:c.[3532C>T;4697C>T]	ENSP00000388797.2:p.[Arg1178Trp;Thr1566Met]
ENST00000455624.6:c.[3691C>T;4760C>T]	ENSP00000399524.2:p.[Arg1231Trp;Thr1587Met]
NM_000335.4:c.[3691C>T;4856C>T] , LRG_289t2:c.[3691C>T;4856C>T]	NP_000326.2:p.[Arg1231Trp;Thr1619Met]
NM_001099404.1:c.[3694C>T;4859C>T] , LRG_289t3:c.[3694C>T;4859C>T]	NP_001092874.1:p.[Arg1232Trp;Thr1620Met]
NM_001099405.1:c.[3694C>T;4805C>T]	NP_001092875.1:p.[Arg1232Trp;Thr1602Met]
NM_001160160.1:c.[3691C>T;4760C>T]	NP_001153632.1:p.[Arg1231Trp;Thr1587Met]
NM_001160161.1:c.[3532C>T;4697C>T]	NP_001153633.1:p.[Arg1178Trp;Thr1566Met]
NM_198056.2:c.[3694C>T;4859C>T] , LRG_289t1:c.[3694C>T;4859C>T]	NP_932173.1:p.[Arg1232Trp;Thr1620Met]
XM_006713282.2:c.[3694C>T;4859C>T]	XP_006713345.1:p.[Arg1232Trp;Thr1620Met]
XM_011533991.1:c.[3691C>T;4856C>T]	XP_011532293.1:p.[Arg1231Trp;Thr1619Met]
XM_011533992.1:c.[3565C>T;4730C>T]	XP_011532294.1:p.[Arg1189Trp;Thr1577Met]
NM_001354701.1:c.[3691C>T;4802C>T]	NP_001341630.1:p.[Arg1231Trp;Thr1601Met]
XM_011533991.2:c.[3691C>T;4856C>T]	XP_011532293.1:p.[Arg1231Trp;Thr1619Met]
XM_017007017.1:c.[3532C>T;4697C>T]	XP_016862506.1:p.[Arg1178Trp;Thr1566Met]
NM_000335.5:c.[3691C>T;4856C>T] MANE Select	NP_000326.2:p.[Arg1231Trp;Thr1619Met]
NM_001160160.2:c.[3691C>T;4760C>T]	NP_001153632.1:p.[Arg1231Trp;Thr1587Met]
NM_001354701.2:c.[3691C>T;4802C>T]	NP_001341630.1:p.[Arg1231Trp;Thr1601Met]
NM_001099404.2:c.[3694C>T;4859C>T] MANE Plus Clinical	NP_001092874.1:p.[Arg1232Trp;Thr1620Met]
NM_001099405.2:c.[3694C>T;4805C>T]	NP_001092875.1:p.[Arg1232Trp;Thr1602Met]
NM_001160161.2:c.[3532C>T;4697C>T]	NP_001153633.1:p.[Arg1178Trp;Thr1566Met]
NM_198056.3:c.[3694C>T;4859C>T]	NP_932173.1:p.[Arg1232Trp;Thr1620Met]