Canonical Allele Identifier: CA982892232
Gene: SLC6A4 HGNC NCBI
gnomAD v3:
17:30197786 A / G
gnomAD v4:
chr17-30197786-A-G
Joint Max Group AF 0.00000488 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
dbSNP:
3813034
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30197786A>G , CM000679.2:g.30197786A>G GRCh38
NC_000017.10:g.28524804A>G , CM000679.1:g.28524804A>G GRCh37
NC_000017.9:g.25548930A>G NCBI36
NG_011747.2:g.43151T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650711.1:c.*670T>C MANE Select ENSP00000498537.1:n.*670T>C
ENST00000261707.7:c.*670T>C ENSP00000261707.3:n.*670T>C
ENST00000401766.6:c.*670T>C ENSP00000385822.2:n.*670T>C
NM_001045.5:c.*670T>C NP_001036.1:n.*670T>C
NM_001045.6:c.*670T>C MANE Select NP_001036.1:n.*670T>C
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