Canonical Allele Identifier: CA72959641

Gene: SCN10A

Linked Data

• ClinVar Variation Id: 1307856
• ClinVar RCV Id: RCV001772711 ; RCV002324181 ; RCV002544036
• dbSNP Id: rs970173552
• gnomAD v2: 3-38766785-G-A
• gnomAD v4: 3-38725294-G-A
• MyVariant Identifiers: chr3:g.38766785G>A (hg19) ; chr3:g.38725294G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38725294G>A , CM000665.2:g.38725294G>A	GRCh38
NC_000003.11:g.38766785G>A , CM000665.1:g.38766785G>A	GRCh37
NC_000003.10:g.38741789G>A	NCBI36
NG_031891.2:g.73717C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3108C>T MANE Select	ENSP00000390600.2:p.Val1036=
ENST00000643924.1:c.3105C>T	ENSP00000495595.1:p.Val1035=
ENST00000655275.1:c.3132C>T	ENSP00000499510.1:p.Val1044=
ENST00000449082.2:c.3108C>T	ENSP00000390600.2:p.Val1036=
NM_001293306.2:c.3105C>T	NP_001280235.2:p.Val1035=
NM_001293307.2:c.2814C>T	NP_001280236.2:p.Val938=
NM_006514.3:c.3108C>T	NP_006505.3:p.Val1036=
XM_005265371.2:c.3117C>T	XP_005265428.1:p.Val1039=
XM_011533993.1:c.3114C>T	XP_011532295.1:p.Val1038=
XM_011533994.1:c.2823C>T	XP_011532296.1:p.Val941=
XM_005265371.3:c.3117C>T	XP_005265428.1:p.Val1039=
XM_011533993.2:c.3114C>T	XP_011532295.1:p.Val1038=
XM_011533994.2:c.2823C>T	XP_011532296.1:p.Val941=
NM_006514.4:c.3108C>T MANE Select	NP_006505.4:p.Val1036=