Canonical Allele Identifier: CA349025295

Gene: SCN3A

Linked Data

• ClinVar Variation Id: 657113
• ClinVar RCV Id: RCV000813670
• dbSNP Id: rs775485970
• gnomAD v2: 2-165953827-G-A
• gnomAD v4: 2-165097317-G-A
• COSMIC: COSM5623484 ; COSM5623485
• MyVariant Identifiers: chr2:g.165953827G>A (hg19) ; chr2:g.165097317G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165097317G>A , CM000664.2:g.165097317G>A	GRCh38
NC_000002.11:g.165953827G>A , CM000664.1:g.165953827G>A	GRCh37
NC_000002.10:g.165662073G>A	NCBI36
NG_042289.1:g.111772C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706067.1:c.4123C>T	ENSP00000516211.1:p.Arg1375Trp
ENST00000283254.12:c.4174C>T MANE Select	ENSP00000283254.7:p.Arg1392Trp
ENST00000638473.1:c.*2015C>T	ENSP00000491552.1:n.*2015C>T
ENST00000639244.1:c.4123C>T	ENSP00000492251.1:p.Arg1375Trp
ENST00000640652.1:c.*908C>T	ENSP00000492807.1:n.*908C>T
ENST00000658209.1:c.2383C>T	ENSP00000499598.1:n.2383C>T
ENST00000283254.11:c.4174C>T	ENSP00000283254.7:p.Arg1392Trp
ENST00000360093.7:c.4174C>T	ENSP00000353206.3:p.Arg1392Trp
ENST00000409101.7:c.4027C>T	ENSP00000386726.3:p.Arg1343Trp
ENST00000440431.6:c.4027C>T	ENSP00000403348.1:p.Arg1343Trp
ENST00000471697.1:n.298C>T
NM_001081676.1:c.4027C>T	NP_001075145.1:p.Arg1343Trp
NM_001081677.1:c.4027C>T	NP_001075146.1:p.Arg1343Trp
NM_006922.3:c.4174C>T	NP_008853.3:p.Arg1392Trp
XM_006712679.1:c.4174C>T	XP_006712742.1:p.Arg1392Trp
XM_011511610.1:c.4174C>T	XP_011509912.1:p.Arg1392Trp
XM_011511611.1:c.4174C>T	XP_011509913.1:p.Arg1392Trp
XM_011511612.1:c.4123C>T	XP_011509914.1:p.Arg1375Trp
XM_011511613.1:c.2284C>T	XP_011509915.1:p.Arg762Trp
XM_011511610.3:c.4174C>T	XP_011509912.1:p.Arg1392Trp
XM_011511613.3:c.2284C>T	XP_011509915.1:p.Arg762Trp
XM_017004660.2:c.4174C>T	XP_016860149.1:p.Arg1392Trp
XM_017004661.2:c.4123C>T	XP_016860150.1:p.Arg1375Trp
XM_017004662.2:c.4036C>T	XP_016860151.1:p.Arg1346Trp
XM_017004663.2:c.2284C>T	XP_016860152.1:p.Arg762Trp
NM_006922.4:c.4174C>T MANE Select	NP_008853.3:p.Arg1392Trp
NM_001081676.2:c.4027C>T	NP_001075145.1:p.Arg1343Trp
NM_001081677.2:c.4027C>T	NP_001075146.1:p.Arg1343Trp