Canonical Allele Identifier: CA457090870
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1128910
ClinVar RCV Id: RCV001461868
dbSNP Id: rs766572560
gnomAD v3: 7-107690207-C-G
gnomAD v4: 7-107690207-C-G
MyVariant Identifiers: chr7:g.107330652C>G (hg19) chr7:g.107690207C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107690207C>G , CM000669.2:g.107690207C>G GRCh38
NC_000007.13:g.107330652C>G , CM000669.1:g.107330652C>G GRCh37
NC_000007.12:g.107117888C>G NCBI36
NG_008489.1:g.34573C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.1233C>G MANE Select ENSP00000494017.1:p.Ala411=
ENST00000265715.7:c.1233C>G ENSP00000265715.3:p.Ala411=
NM_000441.1:c.1233C>G NP_000432.1:p.Ala411=
XM_005250425.1:c.1233C>G XP_005250482.1:p.Ala411=
XM_006716025.2:c.1233C>G XP_006716088.1:p.Ala411=
XM_005250425.2:c.1233C>G XP_005250482.1:p.Ala411=
XM_006716025.3:c.1233C>G XP_006716088.1:p.Ala411=
XM_017012318.1:c.1233C>G XP_016867807.1:p.Ala411=
NM_000441.2:c.1233C>G MANE Select NP_000432.1:p.Ala411=
Search 100 bp 5'
Search 100 bp 3'