Canonical Allele Identifier: CA1358645446
Gene: SCN10A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38736063T>C , CM000665.2:g.38736063T>C GRCh38
NC_000003.11:g.38777554T>C , CM000665.1:g.38777554T>C GRCh37
NC_000003.10:g.38752558T>C NCBI36
NG_031891.2:g.62948A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000449082.3:c.2280+3452A>G MANE Select ENSP00000390600.2:n.2280+3452A>G
ENST00000643924.1:c.2280+3452A>G ENSP00000495595.1:n.2280+3452A>G
ENST00000655275.1:c.2307+3452A>G ENSP00000499510.1:n.2307+3452A>G
ENST00000449082.2:c.2280+3452A>G ENSP00000390600.2:n.2280+3452A>G
NM_001293306.2:c.2280+3452A>G NP_001280235.2:n.2280+3452A>G
NM_001293307.2:c.1986+3452A>G NP_001280236.2:n.1986+3452A>G
NM_006514.3:c.2280+3452A>G NP_006505.3:n.2280+3452A>G
XM_005265371.2:c.2289+3452A>G XP_005265428.1:n.2289+3452A>G
XM_011533993.1:c.2289+3452A>G XP_011532295.1:n.2289+3452A>G
XM_011533994.1:c.1995+3452A>G XP_011532296.1:n.1995+3452A>G
XM_005265371.3:c.2289+3452A>G XP_005265428.1:n.2289+3452A>G
XM_011533993.2:c.2289+3452A>G XP_011532295.1:n.2289+3452A>G
XM_011533994.2:c.1995+3452A>G XP_011532296.1:n.1995+3452A>G
NM_006514.4:c.2280+3452A>G MANE Select NP_006505.4:n.2280+3452A>G