Canonical Allele Identifier: CA2580076280
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2113241
ClinVar RCV Id: RCV003027223
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107715416T>C , CM000669.2:g.107715416T>C GRCh38
NC_000007.13:g.107355861T>C , CM000669.1:g.107355861T>C GRCh37
NC_000007.12:g.107143097T>C NCBI36
NG_008489.1:g.59782T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000644269.2:c.2320-7T>C MANE Select ENSP00000494017.1:n.2320-7T>C
ENST00000644846.1:c.976-7T>C
ENST00000265715.7:c.2320-7T>C ENSP00000265715.3:n.2320-7T>C
ENST00000492030.2:n.506-7T>C
NM_000441.1:c.2320-7T>C NP_000432.1:n.2320-7T>C
XM_005250425.1:c.2320-7T>C XP_005250482.1:n.2320-7T>C
XM_005250425.2:c.2320-7T>C XP_005250482.1:n.2320-7T>C
XM_017012318.1:c.2242-7T>C XP_016867807.1:n.2242-7T>C
NM_000441.2:c.2320-7T>C MANE Select NP_000432.1:n.2320-7T>C
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