Canonical Allele Identifier: CA352156602

Gene: SCN10A

Linked Data

• ClinVar Variation Id: 1728971
• ClinVar RCV Id: RCV002324623
• MyVariant Identifiers: chr3:g.38766679G>C (hg19) ; chr3:g.38725188G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38725188G>C , CM000665.2:g.38725188G>C	GRCh38
NC_000003.11:g.38766679G>C , CM000665.1:g.38766679G>C	GRCh37
NC_000003.10:g.38741683G>C	NCBI36
NG_031891.2:g.73823C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3214C>G MANE Select	ENSP00000390600.2:p.Gln1072Glu
ENST00000643924.1:c.3211C>G	ENSP00000495595.1:p.Gln1071Glu
ENST00000655275.1:c.3238C>G	ENSP00000499510.1:p.Gln1080Glu
ENST00000449082.2:c.3214C>G	ENSP00000390600.2:p.Gln1072Glu
NM_001293306.2:c.3211C>G	NP_001280235.2:p.Gln1071Glu
NM_001293307.2:c.2920C>G	NP_001280236.2:p.Gln974Glu
NM_006514.3:c.3214C>G	NP_006505.3:p.Gln1072Glu
XM_005265371.2:c.3223C>G	XP_005265428.1:p.Gln1075Glu
XM_011533993.1:c.3220C>G	XP_011532295.1:p.Gln1074Glu
XM_011533994.1:c.2929C>G	XP_011532296.1:p.Gln977Glu
XM_005265371.3:c.3223C>G	XP_005265428.1:p.Gln1075Glu
XM_011533993.2:c.3220C>G	XP_011532295.1:p.Gln1074Glu
XM_011533994.2:c.2929C>G	XP_011532296.1:p.Gln977Glu
NM_006514.4:c.3214C>G MANE Select	NP_006505.4:p.Gln1072Glu