Canonical Allele Identifier: CA132707
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 43543
ClinVar RCV Id: RCV000036479 RCV000671237 RCV000893561 RCV001785463
dbSNP Id: rs142723249
ExAC: 7:107350599 G / T
gnomAD v2: 7-107350599-G-T
gnomAD v3: 7-107710154-G-T
gnomAD v4: 7-107710154-G-T
MyVariant Identifiers: chr7:g.107350599G>T (hg19) chr7:g.107710154G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107710154G>T , CM000669.2:g.107710154G>T GRCh38
NC_000007.13:g.107350599G>T , CM000669.1:g.107350599G>T GRCh37
NC_000007.12:g.107137835G>T NCBI36
NG_008489.1:g.54520G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.2190G>T MANE Select ENSP00000494017.1:p.Gln730His
ENST00000644846.1:c.846G>T
ENST00000265715.7:c.2190G>T ENSP00000265715.3:p.Gln730His
ENST00000492030.2:n.377-1G>T
NM_000441.1:c.2190G>T NP_000432.1:p.Gln730His
XM_005250425.1:c.2190G>T XP_005250482.1:p.Gln730His
XM_005250425.2:c.2190G>T XP_005250482.1:p.Gln730His
XM_017012318.1:c.2112G>T XP_016867807.1:p.Gln704His
NM_000441.2:c.2190G>T MANE Select NP_000432.1:p.Gln730His
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