Canonical Allele Identifier: CA457096117
Gene: SLC26A4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.107336428C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107695983C>G , CM000669.2:g.107695983C>G GRCh38
NC_000007.13:g.107336428C>G , CM000669.1:g.107336428C>G GRCh37
NC_000007.12:g.107123664C>G NCBI36
NG_008489.1:g.40349C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.1488C>G MANE Select ENSP00000494017.1:p.Leu496=
ENST00000644846.1:c.199C>G
ENST00000265715.7:c.1488C>G ENSP00000265715.3:p.Leu496=
ENST00000477350.5:n.335C>G
ENST00000480841.5:n.337C>G
ENST00000497446.5:n.503C>G
NM_000441.1:c.1488C>G NP_000432.1:p.Leu496=
XM_005250425.1:c.1488C>G XP_005250482.1:p.Leu496=
XM_005250425.2:c.1488C>G XP_005250482.1:p.Leu496=
XM_017012318.1:c.1410C>G XP_016867807.1:p.Leu470=
NM_000441.2:c.1488C>G MANE Select NP_000432.1:p.Leu496=