Canonical Allele Identifier: CA537120100

Gene: SCN3A

Linked Data

• dbSNP Id: rs1559180361
• gnomAD v2: 2-165953687-CGAA-C
• gnomAD v3: 2-165097177-CGAA-C
• gnomAD v4: 2-165097177-CGAA-C
• MyVariant Identifiers: chr2:g.165953688_165953690del (hg19) ; chr2:g.165097178_165097180del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165097181_165097183del , CM000664.2:g.165097181_165097183del	GRCh38
NC_000002.11:g.165953691_165953693del , CM000664.1:g.165953691_165953693del	GRCh37
NC_000002.10:g.165661937_165661939del	NCBI36
NG_042289.1:g.111909_111911del

Transcript Alleles

HGVS	Amino-acid change
ENST00000706067.1:c.4188+72_4188+74del	ENSP00000516211.1:n.4188+72_4188+74del
ENST00000283254.12:c.4239+72_4239+74del MANE Select	ENSP00000283254.7:n.4239+72_4239+74del
ENST00000638473.1:c.*2080+72_*2080+74del	ENSP00000491552.1:n.*2080+72_*2080+74del
ENST00000639244.1:c.4188+72_4188+74del	ENSP00000492251.1:n.4188+72_4188+74del
ENST00000640652.1:c.*973+72_*973+74del	ENSP00000492807.1:n.*973+72_*973+74del
ENST00000658209.1:c.2448+72_2448+74del	ENSP00000499598.1:n.2448+72_2448+74del
ENST00000283254.11:c.4239+72_4239+74del	ENSP00000283254.7:n.4239+72_4239+74del
ENST00000360093.7:c.4239+72_4239+74del	ENSP00000353206.3:n.4239+72_4239+74del
ENST00000409101.7:c.4092+72_4092+74del	ENSP00000386726.3:n.4092+72_4092+74del
ENST00000471697.1:n.363+72_363+74del
NM_001081676.1:c.4092+72_4092+74del	NP_001075145.1:n.4092+72_4092+74del
NM_001081677.1:c.4092+72_4092+74del	NP_001075146.1:n.4092+72_4092+74del
NM_006922.3:c.4239+72_4239+74del	NP_008853.3:n.4239+72_4239+74del
XM_006712679.1:c.4239+72_4239+74del	XP_006712742.1:n.4239+72_4239+74del
XM_011511610.1:c.4239+72_4239+74del	XP_011509912.1:n.4239+72_4239+74del
XM_011511611.1:c.4239+72_4239+74del	XP_011509913.1:n.4239+72_4239+74del
XM_011511612.1:c.4188+72_4188+74del	XP_011509914.1:n.4188+72_4188+74del
XM_011511613.1:c.2349+72_2349+74del	XP_011509915.1:n.2349+72_2349+74del
XM_011511610.3:c.4239+72_4239+74del	XP_011509912.1:n.4239+72_4239+74del
XM_011511613.3:c.2349+72_2349+74del	XP_011509915.1:n.2349+72_2349+74del
XM_017004660.2:c.4239+72_4239+74del	XP_016860149.1:n.4239+72_4239+74del
XM_017004661.2:c.4188+72_4188+74del	XP_016860150.1:n.4188+72_4188+74del
XM_017004662.2:c.4101+72_4101+74del	XP_016860151.1:n.4101+72_4101+74del
XM_017004663.2:c.2349+72_2349+74del	XP_016860152.1:n.2349+72_2349+74del
NM_006922.4:c.4239+72_4239+74del MANE Select	NP_008853.3:n.4239+72_4239+74del
NM_001081676.2:c.4092+72_4092+74del	NP_001075145.1:n.4092+72_4092+74del
NM_001081677.2:c.4092+72_4092+74del	NP_001075146.1:n.4092+72_4092+74del