Canonical Allele Identifier: CA4432926

Gene: SLC26A4

Linked Data

• ClinVar Variation Id: 1132387
• ClinVar RCV Id: RCV001466571
• dbSNP Id: rs770960610
• ExAC: 7:107341542 A / G
• MyVariant Identifiers: chr7:g.107341542A>G (hg19) ; chr7:g.107701097A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107701097A>G , CM000669.2:g.107701097A>G	GRCh38
NC_000007.13:g.107341542A>G , CM000669.1:g.107341542A>G	GRCh37
NC_000007.12:g.107128778A>G	NCBI36
NG_008489.1:g.45463A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644269.2:c.1708-4A>G MANE Select	ENSP00000494017.1:n.1708-4A>G
ENST00000644846.1:c.419-4A>G
ENST00000265715.7:c.1708-4A>G	ENSP00000265715.3:n.1708-4A>G
ENST00000480841.5:n.557-4A>G
ENST00000492030.2:n.91-730A>G
NM_000441.1:c.1708-4A>G	NP_000432.1:n.1708-4A>G
XM_005250425.1:c.1708-4A>G	XP_005250482.1:n.1708-4A>G
XM_005250425.2:c.1708-4A>G	XP_005250482.1:n.1708-4A>G
XM_017012318.1:c.1630-4A>G	XP_016867807.1:n.1630-4A>G
NM_000441.2:c.1708-4A>G MANE Select	NP_000432.1:n.1708-4A>G