Canonical Allele Identifier: CA433138457
Gene: SCN10A HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.38766680A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38725189A>G , CM000665.2:g.38725189A>G GRCh38
NC_000003.11:g.38766680A>G , CM000665.1:g.38766680A>G GRCh37
NC_000003.10:g.38741684A>G NCBI36
NG_031891.2:g.73822T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000449082.3:c.3213T>C MANE Select ENSP00000390600.2:p.Pro1071=
ENST00000643924.1:c.3210T>C ENSP00000495595.1:p.Pro1070=
ENST00000655275.1:c.3237T>C ENSP00000499510.1:p.Pro1079=
ENST00000449082.2:c.3213T>C ENSP00000390600.2:p.Pro1071=
NM_001293306.2:c.3210T>C NP_001280235.2:p.Pro1070=
NM_001293307.2:c.2919T>C NP_001280236.2:p.Pro973=
NM_006514.3:c.3213T>C NP_006505.3:p.Pro1071=
XM_005265371.2:c.3222T>C XP_005265428.1:p.Pro1074=
XM_011533993.1:c.3219T>C XP_011532295.1:p.Pro1073=
XM_011533994.1:c.2928T>C XP_011532296.1:p.Pro976=
XM_005265371.3:c.3222T>C XP_005265428.1:p.Pro1074=
XM_011533993.2:c.3219T>C XP_011532295.1:p.Pro1073=
XM_011533994.2:c.2928T>C XP_011532296.1:p.Pro976=
NM_006514.4:c.3213T>C MANE Select NP_006505.4:p.Pro1071=