Canonical Allele Identifier: CA261400
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 43495
ClinVar RCV Id: RCV000036427 RCV001171536 RCV002272039 RCV003473262 RCV004528181
dbSNP Id: rs397516414
gnomAD v4: 7-107690178-G-A
MyVariant Identifiers: chr7:g.107330623G>A (hg19) chr7:g.107690178G>A (hg38)
ERepo: CA261400/MONDO:0010134/005
PubMed: PMID:19204907
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107690178G>A , CM000669.2:g.107690178G>A GRCh38
NC_000007.13:g.107330623G>A , CM000669.1:g.107330623G>A GRCh37
NC_000007.12:g.107117859G>A NCBI36
NG_008489.1:g.34544G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.1204G>A MANE Select ENSP00000494017.1:p.Val402Met
ENST00000265715.7:c.1204G>A ENSP00000265715.3:p.Val402Met
NM_000441.1:c.1204G>A NP_000432.1:p.Val402Met
XM_005250425.1:c.1204G>A XP_005250482.1:p.Val402Met
XM_006716025.2:c.1204G>A XP_006716088.1:p.Val402Met
XM_005250425.2:c.1204G>A XP_005250482.1:p.Val402Met
XM_006716025.3:c.1204G>A XP_006716088.1:p.Val402Met
XM_017012318.1:c.1204G>A XP_016867807.1:p.Val402Met
NM_000441.2:c.1204G>A MANE Select NP_000432.1:p.Val402Met
Search 100 bp 5'
Search 100 bp 3'