Canonical Allele Identifier: CA164218416
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1179595
ClinVar RCV Id: RCV001536616
dbSNP Id: rs149124215
gnomAD v2: 7-107342185-T-G
gnomAD v3: 7-107701740-T-G
gnomAD v4: 7-107701740-T-G
MyVariant Identifiers: chr7:g.107342185T>G (hg19) chr7:g.107701740T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107701740T>G , CM000669.2:g.107701740T>G GRCh38
NC_000007.13:g.107342185T>G , CM000669.1:g.107342185T>G GRCh37
NC_000007.12:g.107129421T>G NCBI36
NG_008489.1:g.46106T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.1804-87T>G MANE Select ENSP00000494017.1:n.1804-87T>G
ENST00000644846.1:c.515-87T>G
ENST00000265715.7:c.1804-87T>G ENSP00000265715.3:n.1804-87T>G
ENST00000480841.5:n.653-87T>G
ENST00000492030.2:n.91-87T>G
NM_000441.1:c.1804-87T>G NP_000432.1:n.1804-87T>G
XM_005250425.1:c.1804-87T>G XP_005250482.1:n.1804-87T>G
XM_005250425.2:c.1804-87T>G XP_005250482.1:n.1804-87T>G
XM_017012318.1:c.1726-87T>G XP_016867807.1:n.1726-87T>G
NM_000441.2:c.1804-87T>G MANE Select NP_000432.1:n.1804-87T>G
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