Canonical Allele Identifier: CA368843741
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 691516
ClinVar RCV Id: RCV001004647
dbSNP Id: rs1584337228
MyVariant Identifiers: chr7:g.107342438G>A (hg19) chr7:g.107701993G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107701993G>A , CM000669.2:g.107701993G>A GRCh38
NC_000007.13:g.107342438G>A , CM000669.1:g.107342438G>A GRCh37
NC_000007.12:g.107129674G>A NCBI36
NG_008489.1:g.46359G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000644269.2:c.1970G>A MANE Select ENSP00000494017.1:p.Ser657Asn
ENST00000644846.1:c.681G>A
ENST00000265715.7:c.1970G>A ENSP00000265715.3:p.Ser657Asn
ENST00000492030.2:n.257G>A
NM_000441.1:c.1970G>A NP_000432.1:p.Ser657Asn
XM_005250425.1:c.1970G>A XP_005250482.1:p.Ser657Asn
XM_005250425.2:c.1970G>A XP_005250482.1:p.Ser657Asn
XM_017012318.1:c.1892G>A XP_016867807.1:p.Ser631Asn
NM_000441.2:c.1970G>A MANE Select NP_000432.1:p.Ser657Asn
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