Canonical Allele Identifier: CA2740097500
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 3018024
ClinVar RCV Id: RCV003876687

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107701821G>C , CM000669.2:g.107701821G>C GRCh38
NC_000007.13:g.107342266G>C , CM000669.1:g.107342266G>C GRCh37
NC_000007.12:g.107129502G>C NCBI36
NG_008489.1:g.46187G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.1804-6G>C MANE Select ENSP00000494017.1:n.1804-6G>C
ENST00000644846.1:c.515-6G>C
ENST00000265715.7:c.1804-6G>C ENSP00000265715.3:n.1804-6G>C
ENST00000480841.5:n.653-6G>C
ENST00000492030.2:n.91-6G>C
NM_000441.1:c.1804-6G>C NP_000432.1:n.1804-6G>C
XM_005250425.1:c.1804-6G>C XP_005250482.1:n.1804-6G>C
XM_005250425.2:c.1804-6G>C XP_005250482.1:n.1804-6G>C
XM_017012318.1:c.1726-6G>C XP_016867807.1:n.1726-6G>C
NM_000441.2:c.1804-6G>C MANE Select NP_000432.1:n.1804-6G>C