Canonical Allele Identifier: CA457082610
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1110705
ClinVar RCV Id: RCV001437016
dbSNP Id: rs1374641452
gnomAD v2: 7-107315536-A-C
gnomAD v4: 7-107675091-A-C
MyVariant Identifiers: chr7:g.107315536A>C (hg19) chr7:g.107675091A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107675091A>C , CM000669.2:g.107675091A>C GRCh38
NC_000007.13:g.107315536A>C , CM000669.1:g.107315536A>C GRCh37
NC_000007.12:g.107102772A>C NCBI36
NG_008489.1:g.19457A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.747A>C MANE Select ENSP00000494017.1:p.Gly249=
ENST00000265715.7:c.747A>C ENSP00000265715.3:p.Gly249=
NM_000441.1:c.747A>C NP_000432.1:p.Gly249=
XM_005250425.1:c.747A>C XP_005250482.1:p.Gly249=
XM_006716025.2:c.747A>C XP_006716088.1:p.Gly249=
XM_005250425.2:c.747A>C XP_005250482.1:p.Gly249=
XM_006716025.3:c.747A>C XP_006716088.1:p.Gly249=
XM_017012318.1:c.747A>C XP_016867807.1:p.Gly249=
NM_000441.2:c.747A>C MANE Select NP_000432.1:p.Gly249=
Search 100 bp 5'
Search 100 bp 3'