Canonical Allele Identifier: CA4432481
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 691508
ClinVar RCV Id: RCV001004625 RCV001389158
dbSNP Id: rs760413427
ExAC: 7:107314632 A / G
gnomAD v2: 7-107314632-A-G
gnomAD v4: 7-107674187-A-G
MyVariant Identifiers: chr7:g.107314632A>G (hg19) chr7:g.107674187A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107674187A>G , CM000669.2:g.107674187A>G GRCh38
NC_000007.13:g.107314632A>G , CM000669.1:g.107314632A>G GRCh37
NC_000007.12:g.107101868A>G NCBI36
NG_008489.1:g.18553A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000644269.2:c.439A>G MANE Select ENSP00000494017.1:p.Met147Val
ENST00000265715.7:c.439A>G ENSP00000265715.3:p.Met147Val
NM_000441.1:c.439A>G NP_000432.1:p.Met147Val
XM_005250425.1:c.439A>G XP_005250482.1:p.Met147Val
XM_006716025.2:c.439A>G XP_006716088.1:p.Met147Val
XM_005250425.2:c.439A>G XP_005250482.1:p.Met147Val
XM_006716025.3:c.439A>G XP_006716088.1:p.Met147Val
XM_017012318.1:c.439A>G XP_016867807.1:p.Met147Val
NM_000441.2:c.439A>G MANE Select NP_000432.1:p.Met147Val
Search 100 bp 5'
Search 100 bp 3'