Canonical Allele Identifier: CA164228112
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 553188
ClinVar RCV Id: RCV003330882 RCV003558498
dbSNP Id: rs994170964
gnomAD v2: 7-107350579-G-A
gnomAD v3: 7-107710134-G-A
gnomAD v4: 7-107710134-G-A
MyVariant Identifiers: chr7:g.107350579G>A (hg19) chr7:g.107710134G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107710134G>A , CM000669.2:g.107710134G>A GRCh38
NC_000007.13:g.107350579G>A , CM000669.1:g.107350579G>A GRCh37
NC_000007.12:g.107137815G>A NCBI36
NG_008489.1:g.54500G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000644269.2:c.2170G>A MANE Select ENSP00000494017.1:p.Asp724Asn
ENST00000644846.1:c.826G>A
ENST00000265715.7:c.2170G>A ENSP00000265715.3:p.Asp724Asn
ENST00000492030.2:n.377-21G>A
NM_000441.1:c.2170G>A NP_000432.1:p.Asp724Asn
XM_005250425.1:c.2170G>A XP_005250482.1:p.Asp724Asn
XM_005250425.2:c.2170G>A XP_005250482.1:p.Asp724Asn
XM_017012318.1:c.2092G>A XP_016867807.1:p.Asp698Asn
NM_000441.2:c.2170G>A MANE Select NP_000432.1:p.Asp724Asn
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