Canonical Allele Identifier: CA122788
Gene: SLC6A4 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.30211356T>C
GRCh37 chr17:g.28538374T>C
Revel Score:
ENST00000394821 0.246
ENST00000401766 0.246
ENST00000261707 0.246
gnomAD v2:
17:28538374 T / C
gnomAD v3:
17:30211356 T / C
gnomAD v4:
chr17-30211356-T-C
Joint Max Group AF 0.00080709 (NFE)
Genomes Max Group AF 0.00072908 (NFE)
Exomes Max Group AF 0.000802 (NFE)
ClinVar RCV:
RCV000013798
RCV001127236
ClinVar Variation:
12935
dbSNP:
28914832
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30211356T>C , CM000679.2:g.30211356T>C GRCh38
NC_000017.10:g.28538374T>C , CM000679.1:g.28538374T>C GRCh37
NC_000017.9:g.25562500T>C NCBI36
NG_011747.2:g.29581A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000650711.1:c.1273A>G MANE Select ENSP00000498537.1:p.Ile425Val
ENST00000261707.7:c.1273A>G ENSP00000261707.3:p.Ile425Val
ENST00000394821.2:c.1273A>G ENSP00000378298.2:p.Ile425Val
ENST00000401766.6:c.1273A>G ENSP00000385822.2:p.Ile425Val
ENST00000579221.5:c.14A>G
NM_001045.5:c.1273A>G NP_001036.1:p.Ile425Val
NM_001045.6:c.1273A>G MANE Select NP_001036.1:p.Ile425Val
Search 100 bp 5'
Search 100 bp 3'