Canonical Allele Identifier: CA1047006628

Gene: SCN5A

Linked Data

• dbSNP Id: rs2060972666
• gnomAD v3: 3-38548549-C-G
• gnomAD v4: 3-38548549-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38548549C>G , CM000665.2:g.38548549C>G	GRCh38
NC_000003.11:g.38590040C>G , CM000665.1:g.38590040C>G	GRCh37
NC_000003.10:g.38565044C>G	NCBI36
NG_008934.1:g.106124G>C , LRG_289:g.106124G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000327956.7:c.*1772G>C	ENSP00000333674.7:n.*1772G>C
ENST00000333535.9:c.*1772G>C	ENSP00000328968.4:n.*1772G>C
ENST00000413689.6:c.*1772G>C MANE Plus Clinical	ENSP00000410257.1:n.*1772G>C
ENST00000423572.7:c.*1772G>C MANE Select	ENSP00000398266.2:n.*1772G>C
ENST00000333535.8:c.*1772G>C	ENSP00000328968.4:n.*1772G>C
ENST00000413689.5:c.*1772G>C	ENSP00000410257.1:n.*1772G>C
ENST00000414099.6:c.*1772G>C	ENSP00000398962.2:n.*1772G>C
ENST00000423572.6:c.*1772G>C	ENSP00000398266.2:n.*1772G>C
ENST00000425664.5:c.*1772G>C	ENSP00000416634.1:n.*1772G>C
ENST00000451551.6:c.*1772G>C	ENSP00000388797.2:n.*1772G>C
NM_000335.4:c.*1772G>C , LRG_289t2:c.*1772G>C	NP_000326.2:n.*1772G>C
NM_001099404.1:c.*1772G>C , LRG_289t3:c.*1772G>C	NP_001092874.1:n.*1772G>C
NM_001099405.1:c.*1772G>C	NP_001092875.1:n.*1772G>C
NM_001160160.1:c.*1772G>C	NP_001153632.1:n.*1772G>C
NM_001160161.1:c.*1772G>C	NP_001153633.1:n.*1772G>C
NM_198056.2:c.*1772G>C , LRG_289t1:c.*1772G>C	NP_932173.1:n.*1772G>C
XM_006713282.2:c.*1772G>C	XP_006713345.1:n.*1772G>C
XM_011533991.1:c.*1772G>C	XP_011532293.1:n.*1772G>C
XM_011533992.1:c.*1772G>C	XP_011532294.1:n.*1772G>C
NM_001354701.1:c.*1772G>C	NP_001341630.1:n.*1772G>C
XM_011533991.2:c.*1772G>C	XP_011532293.1:n.*1772G>C
XM_017007017.1:c.*1772G>C	XP_016862506.1:n.*1772G>C
NM_000335.5:c.*1772G>C MANE Select	NP_000326.2:n.*1772G>C
NM_001160160.2:c.*1772G>C	NP_001153632.1:n.*1772G>C
NM_001354701.2:c.*1772G>C	NP_001341630.1:n.*1772G>C
NM_001099404.2:c.*1772G>C MANE Plus Clinical	NP_001092874.1:n.*1772G>C
NM_001099405.2:c.*1772G>C	NP_001092875.1:n.*1772G>C
NM_001160161.2:c.*1772G>C	NP_001153633.1:n.*1772G>C
NM_198056.3:c.*1772G>C	NP_932173.1:n.*1772G>C