Canonical Allele Identifier: CA117712
Gene: SLC27A4 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.128345497C>A
GRCh37 chr9:g.131107776C>A
gnomAD v2:
9:131107776 C / A
gnomAD v3:
9:128345497 C / A
gnomAD v4:
chr9-128345497-C-A
Joint Max Group AF 0.00007082 (NFE)
Genomes Max Group AF 0.00002846 (NFE)
Exomes Max Group AF 0.00007141 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.128345497C>A , CM000671.2:g.128345497C>A GRCh38
NC_000009.11:g.131107776C>A , CM000671.1:g.131107776C>A GRCh37
NC_000009.10:g.130147597C>A NCBI36
NG_017057.1:g.9938C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000300456.5:c.504C>A MANE Select ENSP00000300456.3:p.Cys168Ter
ENST00000300456.4:c.504C>A ENSP00000300456.3:p.Cys168Ter
ENST00000372870.5:c.231+2216C>A ENSP00000361961.1:n.231+2216C>A
NM_005094.3:c.504C>A NP_005085.2:p.Cys168Ter
XM_017014222.1:c.504C>A XP_016869711.1:p.Cys168Ter
XM_024447391.1:c.504C>A XP_024303159.1:p.Cys168Ter
NM_005094.4:c.504C>A MANE Select NP_005085.2:p.Cys168Ter
Search 100 bp 5'
Search 100 bp 3'