Canonical Allele Identifier: CA368839280
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1028755
dbSNP Id: rs111033527

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107690208G>T , CM000669.2:g.107690208G>T GRCh38
NC_000007.13:g.107330653G>T , CM000669.1:g.107330653G>T GRCh37
NC_000007.12:g.107117889G>T NCBI36
NG_008489.1:g.34574G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.1234G>T MANE Select ENSP00000494017.1:p.Val412Phe
ENST00000265715.7:c.1234G>T ENSP00000265715.3:p.Val412Phe
NM_000441.1:c.1234G>T NP_000432.1:p.Val412Phe
XM_005250425.1:c.1234G>T XP_005250482.1:p.Val412Phe
XM_006716025.2:c.1234G>T XP_006716088.1:p.Val412Phe
XM_005250425.2:c.1234G>T XP_005250482.1:p.Val412Phe
XM_006716025.3:c.1234G>T XP_006716088.1:p.Val412Phe
XM_017012318.1:c.1234G>T XP_016867807.1:p.Val412Phe
NM_000441.2:c.1234G>T MANE Select NP_000432.1:p.Val412Phe