Canonical Allele Identifier: CA368845496
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1297074
ClinVar RCV Id: RCV002051743 RCV003558848
dbSNP Id: rs2129319905
MyVariant Identifiers: chr7:g.107350516C>G (hg19) chr7:g.107710071C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107710071C>G , CM000669.2:g.107710071C>G GRCh38
NC_000007.13:g.107350516C>G , CM000669.1:g.107350516C>G GRCh37
NC_000007.12:g.107137752C>G NCBI36
NG_008489.1:g.54437C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.2107C>G MANE Select ENSP00000494017.1:p.Leu703Val
ENST00000644846.1:c.763C>G
ENST00000265715.7:c.2107C>G ENSP00000265715.3:p.Leu703Val
ENST00000492030.2:n.377-84C>G
NM_000441.1:c.2107C>G NP_000432.1:p.Leu703Val
XM_005250425.1:c.2107C>G XP_005250482.1:p.Leu703Val
XM_005250425.2:c.2107C>G XP_005250482.1:p.Leu703Val
XM_017012318.1:c.2029C>G XP_016867807.1:p.Leu677Val
NM_000441.2:c.2107C>G MANE Select NP_000432.1:p.Leu703Val
Search 100 bp 5'
Search 100 bp 3'