Canonical Allele Identifier: CA4432600
Gene: SLC26A4 HGNC NCBI

Linked Data

dbSNP Id: rs138816005
ExAC: 7:107323753 G / T
gnomAD v2: 7-107323753-G-T
gnomAD v3: 7-107683308-G-T
gnomAD v4: 7-107683308-G-T
COSMIC: COSM6108149
MyVariant Identifiers: chr7:g.107323753G>T (hg19) chr7:g.107683308G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107683308G>T , CM000669.2:g.107683308G>T GRCh38
NC_000007.13:g.107323753G>T , CM000669.1:g.107323753G>T GRCh37
NC_000007.12:g.107110989G>T NCBI36
NG_008489.1:g.27674G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.872G>T MANE Select ENSP00000494017.1:p.Arg291Leu
ENST00000265715.7:c.872G>T ENSP00000265715.3:p.Arg291Leu
NM_000441.1:c.872G>T NP_000432.1:p.Arg291Leu
XM_005250425.1:c.872G>T XP_005250482.1:p.Arg291Leu
XM_006716025.2:c.872G>T XP_006716088.1:p.Arg291Leu
XM_005250425.2:c.872G>T XP_005250482.1:p.Arg291Leu
XM_006716025.3:c.872G>T XP_006716088.1:p.Arg291Leu
XM_017012318.1:c.872G>T XP_016867807.1:p.Arg291Leu
NM_000441.2:c.872G>T MANE Select NP_000432.1:p.Arg291Leu
Search 100 bp 5'
Search 100 bp 3'