Canonical Allele Identifier: CA368846095
Gene: SLC26A4 HGNC NCBI

Linked Data

dbSNP Id: rs727503431
MyVariant Identifiers: chr7:g.107350624C>G (hg19) chr7:g.107710179C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107710179C>G , CM000669.2:g.107710179C>G GRCh38
NC_000007.13:g.107350624C>G , CM000669.1:g.107350624C>G GRCh37
NC_000007.12:g.107137860C>G NCBI36
NG_008489.1:g.54545C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.2215C>G MANE Select ENSP00000494017.1:p.Gln739Glu
ENST00000644846.1:c.871C>G
ENST00000265715.7:c.2215C>G ENSP00000265715.3:p.Gln739Glu
ENST00000492030.2:n.401C>G
NM_000441.1:c.2215C>G NP_000432.1:p.Gln739Glu
XM_005250425.1:c.2215C>G XP_005250482.1:p.Gln739Glu
XM_005250425.2:c.2215C>G XP_005250482.1:p.Gln739Glu
XM_017012318.1:c.2137C>G XP_016867807.1:p.Gln713Glu
NM_000441.2:c.2215C>G MANE Select NP_000432.1:p.Gln739Glu
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