Canonical Allele Identifier: CA132729
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 43558
ClinVar RCV Id: RCV000036495 RCV000905996 RCV001004772 RCV001161067 RCV002496565
dbSNP Id: rs111033387
ExAC: 7:107314602 T / C
gnomAD v2: 7-107314602-T-C
gnomAD v3: 7-107674157-T-C
gnomAD v4: 7-107674157-T-C
MyVariant Identifiers: chr7:g.107314602T>C (hg19) chr7:g.107674157T>C (hg38)
ERepo: CA132729/MONDO:0010134/005
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107674157T>C , CM000669.2:g.107674157T>C GRCh38
NC_000007.13:g.107314602T>C , CM000669.1:g.107314602T>C GRCh37
NC_000007.12:g.107101838T>C NCBI36
NG_008489.1:g.18523T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.416-7T>C MANE Select ENSP00000494017.1:n.416-7T>C
ENST00000265715.7:c.416-7T>C ENSP00000265715.3:n.416-7T>C
NM_000441.1:c.416-7T>C NP_000432.1:n.416-7T>C
XM_005250425.1:c.416-7T>C XP_005250482.1:n.416-7T>C
XM_006716025.2:c.416-7T>C XP_006716088.1:n.416-7T>C
XM_005250425.2:c.416-7T>C XP_005250482.1:n.416-7T>C
XM_006716025.3:c.416-7T>C XP_006716088.1:n.416-7T>C
XM_017012318.1:c.416-7T>C XP_016867807.1:n.416-7T>C
NM_000441.2:c.416-7T>C MANE Select NP_000432.1:n.416-7T>C
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