Canonical Allele Identifier: CA16041107
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 371146
ClinVar RCV Id: RCV000409144
dbSNP Id: rs1057517042
MyVariant Identifiers: chr7:g.107330592C>A (hg19) chr7:g.107690147C>A (hg38)
PubMed: PMID:16570074 PMID:19040761 PMID:19786220 PMID:22289209 PMID:23385134 PMID:27247933
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107690147C>A , CM000669.2:g.107690147C>A GRCh38
NC_000007.13:g.107330592C>A , CM000669.1:g.107330592C>A GRCh37
NC_000007.12:g.107117828C>A NCBI36
NG_008489.1:g.34513C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000644269.2:c.1173C>A MANE Select ENSP00000494017.1:p.Ser391Arg
ENST00000265715.7:c.1173C>A ENSP00000265715.3:p.Ser391Arg
NM_000441.1:c.1173C>A NP_000432.1:p.Ser391Arg
XM_005250425.1:c.1173C>A XP_005250482.1:p.Ser391Arg
XM_006716025.2:c.1173C>A XP_006716088.1:p.Ser391Arg
XM_005250425.2:c.1173C>A XP_005250482.1:p.Ser391Arg
XM_006716025.3:c.1173C>A XP_006716088.1:p.Ser391Arg
XM_017012318.1:c.1173C>A XP_016867807.1:p.Ser391Arg
NM_000441.2:c.1173C>A MANE Select NP_000432.1:p.Ser391Arg
Search 100 bp 5'
Search 100 bp 3'