Canonical Allele Identifier: CA354287766
Gene: SLC12A8 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.125187311C>A
GRCh37 chr3:g.124906155C>A
Revel Score:
ENST00000479826 0.344
ENST00000393469 0.736
ENST00000423114 0.736
ENST00000469902 (MANE Select) 0.736
ENST00000462437 0.736
gnomAD v4:
chr3-125187311-C-A
Joint Max Group AF 0.00001773 (EAS)
Exomes Max Group AF 0.00002003 (EAS)
ClinVar RCV:
RCV004103211
ClinVar Variation:
2240261
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.125187311C>A , CM000665.2:g.125187311C>A GRCh38
NC_000003.11:g.124906155C>A , CM000665.1:g.124906155C>A GRCh37
NC_000003.10:g.126388845C>A NCBI36
NG_027706.1:g.30455G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000469902.6:c.316G>T MANE Select ENSP00000418783.1:p.Val106Phe
ENST00000393469.8:c.316G>T ENSP00000377112.4:p.Val106Phe
ENST00000462437.1:c.220G>T ENSP00000418636.1:p.Val74Phe
ENST00000469902.5:c.316G>T ENSP00000418783.1:p.Val106Phe
ENST00000473262.5:c.269G>T
ENST00000479826.1:c.194G>T ENSP00000420197.1:p.Arg65Leu
NM_001195483.1:c.316G>T NP_001182412.1:p.Val106Phe
NM_024628.5:c.316G>T NP_078904.3:p.Val106Phe
NM_001195483.2:c.316G>T NP_001182412.2:p.Val106Phe
NM_024628.6:c.316G>T MANE Select NP_078904.4:p.Val106Phe
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