Canonical Allele Identifier: CA368842874

Gene: SLC26A4

Linked Data

• ClinVar Variation Id: 2185667
• ClinVar RCV Id: RCV002632554
• gnomAD v4: 7-107701129-A-G
• MyVariant Identifiers: chr7:g.107341574A>G (hg19) ; chr7:g.107701129A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107701129A>G , CM000669.2:g.107701129A>G	GRCh38
NC_000007.13:g.107341574A>G , CM000669.1:g.107341574A>G	GRCh37
NC_000007.12:g.107128810A>G	NCBI36
NG_008489.1:g.45495A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000644269.2:c.1736A>G MANE Select	ENSP00000494017.1:p.Asn579Ser
ENST00000644846.1:c.447A>G
ENST00000265715.7:c.1736A>G	ENSP00000265715.3:p.Asn579Ser
ENST00000480841.5:n.585A>G
ENST00000492030.2:n.91-698A>G
NM_000441.1:c.1736A>G	NP_000432.1:p.Asn579Ser
XM_005250425.1:c.1736A>G	XP_005250482.1:p.Asn579Ser
XM_005250425.2:c.1736A>G	XP_005250482.1:p.Asn579Ser
XM_017012318.1:c.1658A>G	XP_016867807.1:p.Asn553Ser
NM_000441.2:c.1736A>G MANE Select	NP_000432.1:p.Asn579Ser