Canonical Allele Identifier: CA368841643

Gene: SLC26A4

Linked Data

• ClinVar Variation Id: 2136591
• ClinVar RCV Id: RCV003062128
• MyVariant Identifiers: chr7:g.107338532C>G (hg19) ; chr7:g.107698087C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107698087C>G , CM000669.2:g.107698087C>G	GRCh38
NC_000007.13:g.107338532C>G , CM000669.1:g.107338532C>G	GRCh37
NC_000007.12:g.107125768C>G	NCBI36
NG_008489.1:g.42453C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644269.2:c.1590C>G MANE Select	ENSP00000494017.1:p.Tyr530Ter
ENST00000644846.1:c.301C>G
ENST00000265715.7:c.1590C>G	ENSP00000265715.3:p.Tyr530Ter
ENST00000477350.5:n.437C>G
ENST00000480841.5:n.439C>G
NM_000441.1:c.1590C>G	NP_000432.1:p.Tyr530Ter
XM_005250425.1:c.1590C>G	XP_005250482.1:p.Tyr530Ter
XM_005250425.2:c.1590C>G	XP_005250482.1:p.Tyr530Ter
XM_017012318.1:c.1512C>G	XP_016867807.1:p.Tyr504Ter
NM_000441.2:c.1590C>G MANE Select	NP_000432.1:p.Tyr530Ter