Canonical Allele Identifier: CA368835458
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 558188
ClinVar RCV Id: RCV000674416
dbSNP Id: rs867212046
MyVariant Identifiers: chr7:g.107323771C>A (hg19) chr7:g.107683326C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107683326C>A , CM000669.2:g.107683326C>A GRCh38
NC_000007.13:g.107323771C>A , CM000669.1:g.107323771C>A GRCh37
NC_000007.12:g.107111007C>A NCBI36
NG_008489.1:g.27692C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000644269.2:c.890C>A MANE Select ENSP00000494017.1:p.Pro297Gln
ENST00000265715.7:c.890C>A ENSP00000265715.3:p.Pro297Gln
NM_000441.1:c.890C>A NP_000432.1:p.Pro297Gln
XM_005250425.1:c.890C>A XP_005250482.1:p.Pro297Gln
XM_006716025.2:c.890C>A XP_006716088.1:p.Pro297Gln
XM_005250425.2:c.890C>A XP_005250482.1:p.Pro297Gln
XM_006716025.3:c.890C>A XP_006716088.1:p.Pro297Gln
XM_017012318.1:c.890C>A XP_016867807.1:p.Pro297Gln
NM_000441.2:c.890C>A MANE Select NP_000432.1:p.Pro297Gln
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