Canonical Allele Identifier: CA349084469
Gene: SCN7A HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.166423412C>T
GRCh37 chr2:g.167279922C>T
Revel Score:
ENST00000409855 0.344
ENST00000259060 0.344
gnomAD v2:
2:167279922 C / T
gnomAD v3:
2:166423412 C / T
gnomAD v4:
chr2-166423412-C-T
Joint Max Group AF 0.00001394 (NFE)
Genomes Max Group AF 0.00000489 (NFE)
Exomes Max Group AF 0.00001313 (NFE)
dbSNP:
6738031
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.166423412C>T , CM000664.2:g.166423412C>T GRCh38
NC_000002.11:g.167279922C>T , CM000664.1:g.167279922C>T GRCh37
NC_000002.10:g.166988168C>T NCBI36
NG_031928.1:g.68560G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000441411.2:c.2874G>A ENSP00000403846.2:p.Met958Ile
ENST00000643258.1:c.2874G>A MANE Select ENSP00000496114.1:p.Met958Ile
ENST00000409855.5:c.2874G>A ENSP00000386796.1:p.Met958Ile
ENST00000424326.5:c.*679G>A ENSP00000396600.1:n.*679G>A
ENST00000619410.4:c.2874G>A ENSP00000478562.1:p.Met958Ile
ENST00000621965.4:c.2874G>A ENSP00000481734.1:p.Met958Ile
NM_002976.3:c.2874G>A NP_002967.2:p.Met958Ile
NR_045628.1:n.3098G>A
XM_006712680.1:c.2874G>A XP_006712743.1:p.Met958Ile
XM_006712681.2:c.2874G>A XP_006712744.1:p.Met958Ile
XM_006712682.2:c.2874G>A XP_006712745.1:p.Met958Ile
XM_011511615.1:c.2874G>A XP_011509917.1:p.Met958Ile
XM_006712680.2:c.2874G>A XP_006712743.1:p.Met958Ile
XM_006712681.3:c.2874G>A XP_006712744.1:p.Met958Ile
XM_006712682.3:c.2874G>A XP_006712745.1:p.Met958Ile
XM_011511615.2:c.2874G>A XP_011509917.1:p.Met958Ile
XM_017004667.1:c.2874G>A XP_016860156.1:p.Met958Ile
NM_002976.4:c.2874G>A MANE Select NP_002967.2:p.Met958Ile
Search 100 bp 5'
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