Canonical Allele Identifier: CA2580076171
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2021922
ClinVar RCV Id: RCV002847385
gnomAD v4: 7-107683547-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107683547G>C , CM000669.2:g.107683547G>C GRCh38
NC_000007.13:g.107323992G>C , CM000669.1:g.107323992G>C GRCh37
NC_000007.12:g.107111228G>C NCBI36
NG_008489.1:g.27913G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000644269.2:c.1001+10G>C MANE Select ENSP00000494017.1:n.1001+10G>C
ENST00000265715.7:c.1001+10G>C ENSP00000265715.3:n.1001+10G>C
NM_000441.1:c.1001+10G>C NP_000432.1:n.1001+10G>C
XM_005250425.1:c.1001+10G>C XP_005250482.1:n.1001+10G>C
XM_006716025.2:c.1001+10G>C XP_006716088.1:n.1001+10G>C
XM_005250425.2:c.1001+10G>C XP_005250482.1:n.1001+10G>C
XM_006716025.3:c.1001+10G>C XP_006716088.1:n.1001+10G>C
XM_017012318.1:c.1001+10G>C XP_016867807.1:n.1001+10G>C
NM_000441.2:c.1001+10G>C MANE Select NP_000432.1:n.1001+10G>C
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