Canonical Allele Identifier: CA2577554024
Gene: SCN10A HGNC NCBI

Linked Data

gnomAD v4: 3-38723340-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38723340G>T , CM000665.2:g.38723340G>T GRCh38
NC_000003.11:g.38764831G>T , CM000665.1:g.38764831G>T GRCh37
NC_000003.10:g.38739835G>T NCBI36
NG_031891.2:g.75671C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000449082.3:c.3352+90C>A MANE Select ENSP00000390600.2:n.3352+90C>A
ENST00000643924.1:c.3349+90C>A ENSP00000495595.1:n.3349+90C>A
ENST00000655275.1:c.3376+90C>A ENSP00000499510.1:n.3376+90C>A
ENST00000449082.2:c.3352+90C>A ENSP00000390600.2:n.3352+90C>A
NM_001293306.2:c.3349+90C>A NP_001280235.2:n.3349+90C>A
NM_001293307.2:c.3058+90C>A NP_001280236.2:n.3058+90C>A
NM_006514.3:c.3352+90C>A NP_006505.3:n.3352+90C>A
XM_005265371.2:c.3361+90C>A XP_005265428.1:n.3361+90C>A
XM_011533993.1:c.3358+90C>A XP_011532295.1:n.3358+90C>A
XM_011533994.1:c.3067+90C>A XP_011532296.1:n.3067+90C>A
XM_005265371.3:c.3361+90C>A XP_005265428.1:n.3361+90C>A
XM_011533993.2:c.3358+90C>A XP_011532295.1:n.3358+90C>A
XM_011533994.2:c.3067+90C>A XP_011532296.1:n.3067+90C>A
NM_006514.4:c.3352+90C>A MANE Select NP_006505.4:n.3352+90C>A