Canonical Allele Identifier: CA132654
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 43491
ClinVar RCV Id: RCV000036422 RCV000275313 RCV000367654 RCV000906081 RCV004541094
dbSNP Id: rs145467740
ExAC: 7:107329565 G / A
gnomAD v2: 7-107329565-G-A
gnomAD v3: 7-107689120-G-A
gnomAD v4: 7-107689120-G-A
MyVariant Identifiers: chr7:g.107329565G>A (hg19) chr7:g.107689120G>A (hg38)
ERepo: CA132654/MONDO:0010134/005
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107689120G>A , CM000669.2:g.107689120G>A GRCh38
NC_000007.13:g.107329565G>A , CM000669.1:g.107329565G>A GRCh37
NC_000007.12:g.107116801G>A NCBI36
NG_008489.1:g.33486G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.1069G>A MANE Select ENSP00000494017.1:p.Ala357Thr
ENST00000265715.7:c.1069G>A ENSP00000265715.3:p.Ala357Thr
NM_000441.1:c.1069G>A NP_000432.1:p.Ala357Thr
XM_005250425.1:c.1069G>A XP_005250482.1:p.Ala357Thr
XM_006716025.2:c.1069G>A XP_006716088.1:p.Ala357Thr
XM_005250425.2:c.1069G>A XP_005250482.1:p.Ala357Thr
XM_006716025.3:c.1069G>A XP_006716088.1:p.Ala357Thr
XM_017012318.1:c.1069G>A XP_016867807.1:p.Ala357Thr
NM_000441.2:c.1069G>A MANE Select NP_000432.1:p.Ala357Thr
Search 100 bp 5'
Search 100 bp 3'