Canonical Allele Identifier: CA906865467

Gene: SCN10A

Linked Data

• dbSNP Id: rs1449757923
• gnomAD v3: 3-38725284-C-CTGG
• gnomAD v4: 3-38725284-C-CTGG
• MyVariant Identifiers: chr3:g.38766775_38766776insTGG (hg19) ; chr3:g.38725284_38725285insTGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38725284_38725285insTGG , CM000665.2:g.38725284_38725285insTGG	GRCh38
NC_000003.11:g.38766775_38766776insTGG , CM000665.1:g.38766775_38766776insTGG	GRCh37
NC_000003.10:g.38741779_38741780insTGG	NCBI36
NG_031891.2:g.73726_73727insCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3117_3118insCCA MANE Select	ENSP00000390600.2:p.Cys1039_Gly1040insPro
ENST00000643924.1:c.3114_3115insCCA	ENSP00000495595.1:p.Cys1038_Gly1039insPro
ENST00000655275.1:c.3141_3142insCCA	ENSP00000499510.1:p.Cys1047_Gly1048insPro
ENST00000449082.2:c.3117_3118insCCA	ENSP00000390600.2:p.Cys1039_Gly1040insPro
NM_001293306.2:c.3114_3115insCCA	NP_001280235.2:p.Cys1038_Gly1039insPro
NM_001293307.2:c.2823_2824insCCA	NP_001280236.2:p.Cys941_Gly942insPro
NM_006514.3:c.3117_3118insCCA	NP_006505.3:p.Cys1039_Gly1040insPro
XM_005265371.2:c.3126_3127insCCA	XP_005265428.1:p.Cys1042_Gly1043insPro
XM_011533993.1:c.3123_3124insCCA	XP_011532295.1:p.Cys1041_Gly1042insPro
XM_011533994.1:c.2832_2833insCCA	XP_011532296.1:p.Cys944_Gly945insPro
XM_005265371.3:c.3126_3127insCCA	XP_005265428.1:p.Cys1042_Gly1043insPro
XM_011533993.2:c.3123_3124insCCA	XP_011532295.1:p.Cys1041_Gly1042insPro
XM_011533994.2:c.2832_2833insCCA	XP_011532296.1:p.Cys944_Gly945insPro
NM_006514.4:c.3117_3118insCCA MANE Select	NP_006505.4:p.Cys1039_Gly1040insPro