Canonical Allele Identifier: CA457104624
Gene: SLC26A4 HGNC NCBI

Linked Data

dbSNP Id: rs2129319942
gnomAD v4: 7-107710160-A-G
MyVariant Identifiers: chr7:g.107350605A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107710160A>G , CM000669.2:g.107710160A>G GRCh38
NC_000007.13:g.107350605A>G , CM000669.1:g.107350605A>G GRCh37
NC_000007.12:g.107137841A>G NCBI36
NG_008489.1:g.54526A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.2196A>G MANE Select ENSP00000494017.1:p.Gln732=
ENST00000644846.1:c.852A>G
ENST00000265715.7:c.2196A>G ENSP00000265715.3:p.Gln732=
ENST00000492030.2:n.382A>G
NM_000441.1:c.2196A>G NP_000432.1:p.Gln732=
XM_005250425.1:c.2196A>G XP_005250482.1:p.Gln732=
XM_005250425.2:c.2196A>G XP_005250482.1:p.Gln732=
XM_017012318.1:c.2118A>G XP_016867807.1:p.Gln706=
NM_000441.2:c.2196A>G MANE Select NP_000432.1:p.Gln732=
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