Canonical Allele Identifier: CA8480467
Gene: SLC6A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 322538
ClinVar RCV Id: RCV000309214 RCV000959379
dbSNP Id: rs56110451
ExAC: 17:28548674 A / G
gnomAD v2: 17-28548674-A-G
gnomAD v3: 17-30221656-A-G
gnomAD v4: 17-30221656-A-G
MyVariant Identifiers: chr17:g.28548674A>G (hg19) chr17:g.30221656A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30221656A>G , CM000679.2:g.30221656A>G GRCh38
NC_000017.10:g.28548674A>G , CM000679.1:g.28548674A>G GRCh37
NC_000017.9:g.25572800A>G NCBI36
NG_011747.2:g.19281T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650711.1:c.303T>C MANE Select ENSP00000498537.1:p.Asn101=
ENST00000261707.7:c.303T>C ENSP00000261707.3:p.Asn101=
ENST00000394821.2:c.303T>C ENSP00000378298.2:p.Asn101=
ENST00000401766.6:c.303T>C ENSP00000385822.2:p.Asn101=
NM_001045.5:c.303T>C NP_001036.1:p.Asn101=
NM_001045.6:c.303T>C MANE Select NP_001036.1:p.Asn101=
Search 100 bp 5'
Search 100 bp 3'