Canonical Allele Identifier: CA352156801

Gene: SCN10A

Linked Data

• MyVariant Identifiers: chr3:g.38766778A>T (hg19) ; chr3:g.38725287A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38725287A>T , CM000665.2:g.38725287A>T	GRCh38
NC_000003.11:g.38766778A>T , CM000665.1:g.38766778A>T	GRCh37
NC_000003.10:g.38741782A>T	NCBI36
NG_031891.2:g.73724T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3115T>A MANE Select	ENSP00000390600.2:p.Cys1039Ser
ENST00000643924.1:c.3112T>A	ENSP00000495595.1:p.Cys1038Ser
ENST00000655275.1:c.3139T>A	ENSP00000499510.1:p.Cys1047Ser
ENST00000449082.2:c.3115T>A	ENSP00000390600.2:p.Cys1039Ser
NM_001293306.2:c.3112T>A	NP_001280235.2:p.Cys1038Ser
NM_001293307.2:c.2821T>A	NP_001280236.2:p.Cys941Ser
NM_006514.3:c.3115T>A	NP_006505.3:p.Cys1039Ser
XM_005265371.2:c.3124T>A	XP_005265428.1:p.Cys1042Ser
XM_011533993.1:c.3121T>A	XP_011532295.1:p.Cys1041Ser
XM_011533994.1:c.2830T>A	XP_011532296.1:p.Cys944Ser
XM_005265371.3:c.3124T>A	XP_005265428.1:p.Cys1042Ser
XM_011533993.2:c.3121T>A	XP_011532295.1:p.Cys1041Ser
XM_011533994.2:c.2830T>A	XP_011532296.1:p.Cys944Ser
NM_006514.4:c.3115T>A MANE Select	NP_006505.4:p.Cys1039Ser