Canonical Allele Identifier: CA2665104693
Gene: SCN10A HGNC NCBI

Linked Data

gnomAD v4: 3-38723363-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38723363T>A , CM000665.2:g.38723363T>A GRCh38
NC_000003.11:g.38764854T>A , CM000665.1:g.38764854T>A GRCh37
NC_000003.10:g.38739858T>A NCBI36
NG_031891.2:g.75648A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000449082.3:c.3352+67A>T MANE Select ENSP00000390600.2:n.3352+67A>T
ENST00000643924.1:c.3349+67A>T ENSP00000495595.1:n.3349+67A>T
ENST00000655275.1:c.3376+67A>T ENSP00000499510.1:n.3376+67A>T
ENST00000449082.2:c.3352+67A>T ENSP00000390600.2:n.3352+67A>T
NM_001293306.2:c.3349+67A>T NP_001280235.2:n.3349+67A>T
NM_001293307.2:c.3058+67A>T NP_001280236.2:n.3058+67A>T
NM_006514.3:c.3352+67A>T NP_006505.3:n.3352+67A>T
XM_005265371.2:c.3361+67A>T XP_005265428.1:n.3361+67A>T
XM_011533993.1:c.3358+67A>T XP_011532295.1:n.3358+67A>T
XM_011533994.1:c.3067+67A>T XP_011532296.1:n.3067+67A>T
XM_005265371.3:c.3361+67A>T XP_005265428.1:n.3361+67A>T
XM_011533993.2:c.3358+67A>T XP_011532295.1:n.3358+67A>T
XM_011533994.2:c.3067+67A>T XP_011532296.1:n.3067+67A>T
NM_006514.4:c.3352+67A>T MANE Select NP_006505.4:n.3352+67A>T