Canonical Allele Identifier: CA2319765
Gene: SCN10A HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.38698236C>T
GRCh37 chr3:g.38739727C>T
Revel Score:
ENST00000449082 (MANE Select) 0.909
gnomAD v2:
3:38739727 C / T
gnomAD v3:
3:38698236 C / T
gnomAD v4:
chr3-38698236-C-T
Joint Max Group AF 0.00706521 (SAS)
Genomes Max Group AF 0.00431215 (SAS)
Exomes Max Group AF 0.00713456 (SAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38698236C>T , CM000665.2:g.38698236C>T GRCh38
NC_000003.11:g.38739727C>T , CM000665.1:g.38739727C>T GRCh37
NC_000003.10:g.38714731C>T NCBI36
NG_031891.2:g.100775G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000449082.3:c.4984G>A MANE Select ENSP00000390600.2:p.Gly1662Ser
ENST00000643924.1:c.4981G>A ENSP00000495595.1:p.Gly1661Ser
ENST00000655275.1:c.5008G>A ENSP00000499510.1:p.Gly1670Ser
ENST00000449082.2:c.4984G>A ENSP00000390600.2:p.Gly1662Ser
NM_001293306.2:c.4981G>A NP_001280235.2:p.Gly1661Ser
NM_001293307.2:c.4690G>A NP_001280236.2:p.Gly1564Ser
NM_006514.3:c.4984G>A NP_006505.3:p.Gly1662Ser
XM_005265371.2:c.4993G>A XP_005265428.1:p.Gly1665Ser
XM_011533993.1:c.4990G>A XP_011532295.1:p.Gly1664Ser
XM_011533994.1:c.4699G>A XP_011532296.1:p.Gly1567Ser
XM_005265371.3:c.4993G>A XP_005265428.1:p.Gly1665Ser
XM_011533993.2:c.4990G>A XP_011532295.1:p.Gly1664Ser
XM_011533994.2:c.4699G>A XP_011532296.1:p.Gly1567Ser
NM_006514.4:c.4984G>A MANE Select NP_006505.4:p.Gly1662Ser
Search 100 bp 5'
Search 100 bp 3'