Canonical Allele Identifier: CA10648969
Gene: SLC6A4 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.30197993A>C
GRCh37 chr17:g.28525011A>C
gnomAD v2:
17:28525011 A / C
gnomAD v3:
17:30197993 A / C
gnomAD v4:
chr17-30197993-A-C
Joint Max Group AF 0.78638535 (EAS)
Genomes Max Group AF 0.7961024 (EAS)
Exomes Max Group AF 0.60239559 (EAS)
ClinVar RCV:
RCV000308551
ClinVar Variation:
322521
dbSNP:
1042173
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30197993A>C , CM000679.2:g.30197993A>C GRCh38
NC_000017.10:g.28525011A>C , CM000679.1:g.28525011A>C GRCh37
NC_000017.9:g.25549137A>C NCBI36
NG_011747.2:g.42944T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000650711.1:c.*463T>G MANE Select ENSP00000498537.1:n.*463T>G
ENST00000261707.7:c.*463T>G ENSP00000261707.3:n.*463T>G
ENST00000401766.6:c.*463T>G ENSP00000385822.2:n.*463T>G
ENST00000579221.5:c.997T>G
NM_001045.5:c.*463T>G NP_001036.1:n.*463T>G
NM_001045.6:c.*463T>G MANE Select NP_001036.1:n.*463T>G
Search 100 bp 5'
Search 100 bp 3'