Canonical Allele Identifier: CA457095988
Gene: SLC26A4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.107336413T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107695968T>C , CM000669.2:g.107695968T>C GRCh38
NC_000007.13:g.107336413T>C , CM000669.1:g.107336413T>C GRCh37
NC_000007.12:g.107123649T>C NCBI36
NG_008489.1:g.40334T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.1473T>C MANE Select ENSP00000494017.1:p.Ile491=
ENST00000644846.1:c.184T>C
ENST00000265715.7:c.1473T>C ENSP00000265715.3:p.Ile491=
ENST00000477350.5:n.320T>C
ENST00000480841.5:n.322T>C
ENST00000497446.5:n.488T>C
NM_000441.1:c.1473T>C NP_000432.1:p.Ile491=
XM_005250425.1:c.1473T>C XP_005250482.1:p.Ile491=
XM_005250425.2:c.1473T>C XP_005250482.1:p.Ile491=
XM_017012318.1:c.1395T>C XP_016867807.1:p.Ile465=
NM_000441.2:c.1473T>C MANE Select NP_000432.1:p.Ile491=