Canonical Allele Identifier: CA2320351

Gene: SCN10A

Linked Data

• ClinVar Variation Id: 965988
• ClinVar RCV Id: RCV001240563
• dbSNP Id: rs751664345
• ExAC: 3:38766795 A / T
• gnomAD v2: 3-38766795-A-T
• MyVariant Identifiers: chr3:g.38766795A>T (hg19) ; chr3:g.38725304A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38725304A>T , CM000665.2:g.38725304A>T	GRCh38
NC_000003.11:g.38766795A>T , CM000665.1:g.38766795A>T	GRCh37
NC_000003.10:g.38741799A>T	NCBI36
NG_031891.2:g.73707T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3098T>A MANE Select	ENSP00000390600.2:p.Leu1033Gln
ENST00000643924.1:c.3095T>A	ENSP00000495595.1:p.Leu1032Gln
ENST00000655275.1:c.3122T>A	ENSP00000499510.1:p.Leu1041Gln
ENST00000449082.2:c.3098T>A	ENSP00000390600.2:p.Leu1033Gln
NM_001293306.2:c.3095T>A	NP_001280235.2:p.Leu1032Gln
NM_001293307.2:c.2804T>A	NP_001280236.2:p.Leu935Gln
NM_006514.3:c.3098T>A	NP_006505.3:p.Leu1033Gln
XM_005265371.2:c.3107T>A	XP_005265428.1:p.Leu1036Gln
XM_011533993.1:c.3104T>A	XP_011532295.1:p.Leu1035Gln
XM_011533994.1:c.2813T>A	XP_011532296.1:p.Leu938Gln
XM_005265371.3:c.3107T>A	XP_005265428.1:p.Leu1036Gln
XM_011533993.2:c.3104T>A	XP_011532295.1:p.Leu1035Gln
XM_011533994.2:c.2813T>A	XP_011532296.1:p.Leu938Gln
NM_006514.4:c.3098T>A MANE Select	NP_006505.4:p.Leu1033Gln