Canonical Allele Identifier: CA2665099164
Gene: SCN10A HGNC NCBI

Linked Data

gnomAD v4: 3-38725066-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38725066A>C , CM000665.2:g.38725066A>C GRCh38
NC_000003.11:g.38766557A>C , CM000665.1:g.38766557A>C GRCh37
NC_000003.10:g.38741561A>C NCBI36
NG_031891.2:g.73945T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000449082.3:c.3228+108T>G MANE Select ENSP00000390600.2:n.3228+108T>G
ENST00000643924.1:c.3225+108T>G ENSP00000495595.1:n.3225+108T>G
ENST00000655275.1:c.3252+108T>G ENSP00000499510.1:n.3252+108T>G
ENST00000449082.2:c.3228+108T>G ENSP00000390600.2:n.3228+108T>G
NM_001293306.2:c.3225+108T>G NP_001280235.2:n.3225+108T>G
NM_001293307.2:c.2934+108T>G NP_001280236.2:n.2934+108T>G
NM_006514.3:c.3228+108T>G NP_006505.3:n.3228+108T>G
XM_005265371.2:c.3237+108T>G XP_005265428.1:n.3237+108T>G
XM_011533993.1:c.3234+108T>G XP_011532295.1:n.3234+108T>G
XM_011533994.1:c.2943+108T>G XP_011532296.1:n.2943+108T>G
XM_005265371.3:c.3237+108T>G XP_005265428.1:n.3237+108T>G
XM_011533993.2:c.3234+108T>G XP_011532295.1:n.3234+108T>G
XM_011533994.2:c.2943+108T>G XP_011532296.1:n.2943+108T>G
NM_006514.4:c.3228+108T>G MANE Select NP_006505.4:n.3228+108T>G