Canonical Allele Identifier: CA352156762

Gene: SCN10A

Linked Data

• ClinVar Variation Id: 1359668
• ClinVar RCV Id: RCV001904483
• dbSNP Id: rs2126000012
• gnomAD v4: 3-38725268-G-C
• MyVariant Identifiers: chr3:g.38766759G>C (hg19) ; chr3:g.38725268G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38725268G>C , CM000665.2:g.38725268G>C	GRCh38
NC_000003.11:g.38766759G>C , CM000665.1:g.38766759G>C	GRCh37
NC_000003.10:g.38741763G>C	NCBI36
NG_031891.2:g.73743C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3134C>G MANE Select	ENSP00000390600.2:p.Pro1045Arg
ENST00000643924.1:c.3131C>G	ENSP00000495595.1:p.Pro1044Arg
ENST00000655275.1:c.3158C>G	ENSP00000499510.1:p.Pro1053Arg
ENST00000449082.2:c.3134C>G	ENSP00000390600.2:p.Pro1045Arg
NM_001293306.2:c.3131C>G	NP_001280235.2:p.Pro1044Arg
NM_001293307.2:c.2840C>G	NP_001280236.2:p.Pro947Arg
NM_006514.3:c.3134C>G	NP_006505.3:p.Pro1045Arg
XM_005265371.2:c.3143C>G	XP_005265428.1:p.Pro1048Arg
XM_011533993.1:c.3140C>G	XP_011532295.1:p.Pro1047Arg
XM_011533994.1:c.2849C>G	XP_011532296.1:p.Pro950Arg
XM_005265371.3:c.3143C>G	XP_005265428.1:p.Pro1048Arg
XM_011533993.2:c.3140C>G	XP_011532295.1:p.Pro1047Arg
XM_011533994.2:c.2849C>G	XP_011532296.1:p.Pro950Arg
NM_006514.4:c.3134C>G MANE Select	NP_006505.4:p.Pro1045Arg