Canonical Allele Identifier: CA4433049
Gene: SLC26A4 HGNC NCBI

Linked Data

dbSNP Id: rs754496857
ExAC: 7:107350515 G / C
gnomAD v2: 7-107350515-G-C
gnomAD v4: 7-107710070-G-C
MyVariant Identifiers: chr7:g.107350515G>C (hg19) chr7:g.107710070G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107710070G>C , CM000669.2:g.107710070G>C GRCh38
NC_000007.13:g.107350515G>C , CM000669.1:g.107350515G>C GRCh37
NC_000007.12:g.107137751G>C NCBI36
NG_008489.1:g.54436G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.2106G>C MANE Select ENSP00000494017.1:p.Lys702Asn
ENST00000644846.1:c.762G>C
ENST00000265715.7:c.2106G>C ENSP00000265715.3:p.Lys702Asn
ENST00000492030.2:n.377-85G>C
NM_000441.1:c.2106G>C NP_000432.1:p.Lys702Asn
XM_005250425.1:c.2106G>C XP_005250482.1:p.Lys702Asn
XM_005250425.2:c.2106G>C XP_005250482.1:p.Lys702Asn
XM_017012318.1:c.2028G>C XP_016867807.1:p.Lys676Asn
NM_000441.2:c.2106G>C MANE Select NP_000432.1:p.Lys702Asn
Search 100 bp 5'
Search 100 bp 3'