Canonical Allele Identifier: CA10627929

Gene: SLC26A4

Linked Data

• ClinVar Variation Id: 358511
• ClinVar RCV Id: RCV000290474 ; RCV000382539
• dbSNP Id: rs886061888
• gnomAD v2: 7-107356509-A-G
• gnomAD v3: 7-107716064-A-G
• gnomAD v4: 7-107716064-A-G
• MyVariant Identifiers: chr7:g.107356509A>G (hg19) ; chr7:g.107716064A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107716064A>G , CM000669.2:g.107716064A>G	GRCh38
NC_000007.13:g.107356509A>G , CM000669.1:g.107356509A>G	GRCh37
NC_000007.12:g.107143745A>G	NCBI36
NG_008489.1:g.60430A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000644269.2:c.*618A>G MANE Select	ENSP00000494017.1:n.*618A>G
ENST00000644846.1:c.1617A>G
ENST00000265715.7:c.*618A>G	ENSP00000265715.3:n.*618A>G
NM_000441.1:c.*618A>G	NP_000432.1:n.*618A>G
XM_005250425.2:c.*618A>G	XP_005250482.1:n.*618A>G
XM_017012318.1:c.*618A>G	XP_016867807.1:n.*618A>G
NM_000441.2:c.*618A>G MANE Select	NP_000432.1:n.*618A>G