Canonical Allele Identifier: CA085417

Gene: SCN5A

Linked Data

• PubMed: PMID:10532948 ; PMID:15851227 ; PMID:18599870

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.[38562456G>A;38613752C>T] , CM000665.2:g.[38562456G>A;38613752C>T]	GRCh38
NC_000003.11:g.[38603947G>A;38655243C>T] , CM000665.1:g.[38603947G>A;38655243C>T]	GRCh37
NC_000003.10:g.[38578951G>A;38630247C>T]	NCBI36
NG_008934.1:g.[40921G>A;92217C>T] , LRG_289:g.[40921G>A;92217C>T]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327956.7:c.[694G>A;3919C>T]	ENSP00000333674.7:p.[Val232Ile;Leu1307Phe]
ENST00000333535.9:c.[694G>A;3922C>T]	ENSP00000328968.4:p.[Val232Ile;Leu1308Phe]
ENST00000413689.6:c.[703+223G>A;3922C>T] MANE Plus Clinical	ENSP00000410257.1:p.Leu1308Phe
ENST00000423572.7:c.[694G>A;3919C>T] MANE Select	ENSP00000398266.2:p.[Val232Ile;Leu1307Phe]
ENST00000333535.8:c.[694G>A;3922C>T]	ENSP00000328968.4:p.[Val232Ile;Leu1308Phe]
ENST00000413689.5:c.[703+223G>A;3922C>T]	ENSP00000410257.1:p.Leu1308Phe
ENST00000414099.6:c.[703+223G>A;3922C>T]	ENSP00000398962.2:p.Leu1308Phe
ENST00000423572.6:c.[694G>A;3919C>T]	ENSP00000398266.2:p.[Val232Ile;Leu1307Phe]
ENST00000425664.5:c.[703+223G>A;3922C>T]	ENSP00000416634.1:p.Leu1308Phe
ENST00000449557.6:c.[694G>A;3760C>T]	ENSP00000413996.2:p.[Val232Ile;Leu1254Phe]
ENST00000450102.6:c.[703+223G>A;3760C>T]	ENSP00000403355.2:p.Leu1254Phe
ENST00000451551.6:c.[703+223G>A;3760C>T]	ENSP00000388797.2:p.Leu1254Phe
ENST00000455624.6:c.[703+223G>A;3919C>T]	ENSP00000399524.2:p.Leu1307Phe
NM_000335.4:c.[694G>A;3919C>T] , LRG_289t2:c.[694G>A;3919C>T]	NP_000326.2:p.[Val232Ile;Leu1307Phe]
NM_001099404.1:c.[703+223G>A;3922C>T] , LRG_289t3:c.[703+223G>A;3922C>T]	NP_001092874.1:p.Leu1308Phe
NM_001099405.1:c.[703+223G>A;3922C>T]	NP_001092875.1:p.Leu1308Phe
NM_001160160.1:c.[703+223G>A;3919C>T]	NP_001153632.1:p.Leu1307Phe
NM_001160161.1:c.[703+223G>A;3760C>T]	NP_001153633.1:p.Leu1254Phe
NM_198056.2:c.[694G>A;3922C>T] , LRG_289t1:c.[694G>A;3922C>T]	NP_932173.1:p.[Val232Ile;Leu1308Phe]
XM_006713282.2:c.[694G>A;3922C>T]	XP_006713345.1:p.[Val232Ile;Leu1308Phe]
XM_011533991.1:c.[703+223G>A;3919C>T]	XP_011532293.1:p.Leu1307Phe
XM_011533992.1:c.[565G>A;3793C>T]	XP_011532294.1:p.[Val189Ile;Leu1265Phe]
NM_001354701.1:c.[703+223G>A;3919C>T]	NP_001341630.1:p.Leu1307Phe
XM_011533991.2:c.[703+223G>A;3919C>T]	XP_011532293.1:p.Leu1307Phe
XM_017007017.1:c.[694G>A;3760C>T]	XP_016862506.1:p.[Val232Ile;Leu1254Phe]
NM_000335.5:c.[694G>A;3919C>T] MANE Select	NP_000326.2:p.[Val232Ile;Leu1307Phe]
NM_001160160.2:c.[703+223G>A;3919C>T]	NP_001153632.1:p.Leu1307Phe
NM_001354701.2:c.[703+223G>A;3919C>T]	NP_001341630.1:p.Leu1307Phe
NM_001099404.2:c.[703+223G>A;3922C>T] MANE Plus Clinical	NP_001092874.1:p.Leu1308Phe
NM_001099405.2:c.[703+223G>A;3922C>T]	NP_001092875.1:p.Leu1308Phe
NM_001160161.2:c.[703+223G>A;3760C>T]	NP_001153633.1:p.Leu1254Phe
NM_198056.3:c.[694G>A;3922C>T]	NP_932173.1:p.[Val232Ile;Leu1308Phe]