Canonical Allele Identifier: CA16041102
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 371079
ClinVar RCV Id: RCV000410577 RCV000579267 RCV004530498 RCV003475961 RCV002481264
dbSNP Id: rs1057516988
gnomAD v2: 7-107314608-G-A
gnomAD v4: 7-107674163-G-A
MyVariant Identifiers: chr7:g.107314608G>A (hg19) chr7:g.107674163G>A (hg38)
PubMed: PMID:17940114 PMID:18250610 PMID:24599119 PMID:26100058
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107674163G>A , CM000669.2:g.107674163G>A GRCh38
NC_000007.13:g.107314608G>A , CM000669.1:g.107314608G>A GRCh37
NC_000007.12:g.107101844G>A NCBI36
NG_008489.1:g.18529G>A

Transcript Alleles

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