Canonical Allele Identifier: CA906865620
Gene: SCN10A HGNC NCBI

Linked Data

dbSNP Id: rs1339671988
gnomAD v3: 3-38725364-C-G
gnomAD v4: 3-38725364-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38725364C>G , CM000665.2:g.38725364C>G GRCh38
NC_000003.11:g.38766855C>G , CM000665.1:g.38766855C>G GRCh37
NC_000003.10:g.38741859C>G NCBI36
NG_031891.2:g.73647G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000449082.3:c.3088-50G>C MANE Select ENSP00000390600.2:n.3088-50G>C
ENST00000643924.1:c.3088-53G>C ENSP00000495595.1:n.3088-53G>C
ENST00000655275.1:c.3115-53G>C ENSP00000499510.1:n.3115-53G>C
ENST00000449082.2:c.3088-50G>C ENSP00000390600.2:n.3088-50G>C
NM_001293306.2:c.3088-53G>C NP_001280235.2:n.3088-53G>C
NM_001293307.2:c.2794-50G>C NP_001280236.2:n.2794-50G>C
NM_006514.3:c.3088-50G>C NP_006505.3:n.3088-50G>C
XM_005265371.2:c.3097-50G>C XP_005265428.1:n.3097-50G>C
XM_011533993.1:c.3097-53G>C XP_011532295.1:n.3097-53G>C
XM_011533994.1:c.2803-50G>C XP_011532296.1:n.2803-50G>C
XM_005265371.3:c.3097-50G>C XP_005265428.1:n.3097-50G>C
XM_011533993.2:c.3097-53G>C XP_011532295.1:n.3097-53G>C
XM_011533994.2:c.2803-50G>C XP_011532296.1:n.2803-50G>C
NM_006514.4:c.3088-50G>C MANE Select NP_006505.4:n.3088-50G>C