Canonical Allele Identifier: CA906865664
Gene: SCN10A HGNC NCBI

Linked Data

dbSNP Id: rs1409684988
gnomAD v2: 3-38766925-T-C
gnomAD v3: 3-38725434-T-C
gnomAD v4: 3-38725434-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38725434T>C , CM000665.2:g.38725434T>C GRCh38
NC_000003.11:g.38766925T>C , CM000665.1:g.38766925T>C GRCh37
NC_000003.10:g.38741929T>C NCBI36
NG_031891.2:g.73577A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000449082.3:c.3088-120A>G MANE Select ENSP00000390600.2:n.3088-120A>G
ENST00000643924.1:c.3088-123A>G ENSP00000495595.1:n.3088-123A>G
ENST00000655275.1:c.3115-123A>G ENSP00000499510.1:n.3115-123A>G
ENST00000449082.2:c.3088-120A>G ENSP00000390600.2:n.3088-120A>G
NM_001293306.2:c.3088-123A>G NP_001280235.2:n.3088-123A>G
NM_001293307.2:c.2794-120A>G NP_001280236.2:n.2794-120A>G
NM_006514.3:c.3088-120A>G NP_006505.3:n.3088-120A>G
XM_005265371.2:c.3097-120A>G XP_005265428.1:n.3097-120A>G
XM_011533993.1:c.3097-123A>G XP_011532295.1:n.3097-123A>G
XM_011533994.1:c.2803-120A>G XP_011532296.1:n.2803-120A>G
XM_005265371.3:c.3097-120A>G XP_005265428.1:n.3097-120A>G
XM_011533993.2:c.3097-123A>G XP_011532295.1:n.3097-123A>G
XM_011533994.2:c.2803-120A>G XP_011532296.1:n.2803-120A>G
NM_006514.4:c.3088-120A>G MANE Select NP_006505.4:n.3088-120A>G