Canonical Allele Identifier: CA261396
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 4819
ClinVar RCV Id: RCV000005088 RCV000036418 RCV000239276 RCV000477914 RCV000824768 RCV004528075
dbSNP Id: rs80338849
ExAC: 7:107323983 G / A
gnomAD v2: 7-107323983-G-A
gnomAD v3: 7-107683538-G-A
gnomAD v4: 7-107683538-G-A
MyVariant Identifiers: chr7:g.107323983G>A (hg19) chr7:g.107683538G>A (hg38)
PubMed: PMID:9618166 PMID:9618167 PMID:10718825 PMID:11317356 PMID:11919333 PMID:14508505 PMID:15279074 PMID:15689455 PMID:17309986 PMID:18285825 PMID:20301640 PMID:20597900
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107683538G>A , CM000669.2:g.107683538G>A GRCh38
NC_000007.13:g.107323983G>A , CM000669.1:g.107323983G>A GRCh37
NC_000007.12:g.107111219G>A NCBI36
NG_008489.1:g.27904G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.1001+1G>A MANE Select ENSP00000494017.1:n.1001+1G>A
ENST00000265715.7:c.1001+1G>A ENSP00000265715.3:n.1001+1G>A
NM_000441.1:c.1001+1G>A NP_000432.1:n.1001+1G>A
XM_005250425.1:c.1001+1G>A XP_005250482.1:n.1001+1G>A
XM_006716025.2:c.1001+1G>A XP_006716088.1:n.1001+1G>A
XM_005250425.2:c.1001+1G>A XP_005250482.1:n.1001+1G>A
XM_006716025.3:c.1001+1G>A XP_006716088.1:n.1001+1G>A
XM_017012318.1:c.1001+1G>A XP_016867807.1:n.1001+1G>A
NM_000441.2:c.1001+1G>A MANE Select NP_000432.1:n.1001+1G>A
Search 100 bp 5'
Search 100 bp 3'