Canonical Allele Identifier: CA4432557
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1513051
ClinVar RCV Id: RCV002045808
dbSNP Id: rs375433525
ExAC: 7:107315544 C / T
gnomAD v2: 7-107315544-C-T
gnomAD v3: 7-107675099-C-T
gnomAD v4: 7-107675099-C-T
MyVariant Identifiers: chr7:g.107315544C>T (hg19) chr7:g.107675099C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107675099C>T , CM000669.2:g.107675099C>T GRCh38
NC_000007.13:g.107315544C>T , CM000669.1:g.107315544C>T GRCh37
NC_000007.12:g.107102780C>T NCBI36
NG_008489.1:g.19465C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.755C>T MANE Select ENSP00000494017.1:p.Ser252Phe
ENST00000265715.7:c.755C>T ENSP00000265715.3:p.Ser252Phe
NM_000441.1:c.755C>T NP_000432.1:p.Ser252Phe
XM_005250425.1:c.755C>T XP_005250482.1:p.Ser252Phe
XM_006716025.2:c.755C>T XP_006716088.1:p.Ser252Phe
XM_005250425.2:c.755C>T XP_005250482.1:p.Ser252Phe
XM_006716025.3:c.755C>T XP_006716088.1:p.Ser252Phe
XM_017012318.1:c.755C>T XP_016867807.1:p.Ser252Phe
NM_000441.2:c.755C>T MANE Select NP_000432.1:p.Ser252Phe
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