Canonical Allele Identifier: CA4432562

Gene: SLC26A4

Linked Data

• ClinVar Variation Id: 557367
• ClinVar RCV Id: RCV000673501
• dbSNP Id: rs774353111
• ExAC: 7:107315558 A / C
• gnomAD v2: 7-107315558-A-C
• gnomAD v3: 7-107675113-A-C
• gnomAD v4: 7-107675113-A-C
• MyVariant Identifiers: chr7:g.107315558A>C (hg19) ; chr7:g.107675113A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107675113A>C , CM000669.2:g.107675113A>C	GRCh38
NC_000007.13:g.107315558A>C , CM000669.1:g.107315558A>C	GRCh37
NC_000007.12:g.107102794A>C	NCBI36
NG_008489.1:g.19479A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644269.2:c.765+4A>C MANE Select	ENSP00000494017.1:n.765+4A>C
ENST00000265715.7:c.765+4A>C	ENSP00000265715.3:n.765+4A>C
NM_000441.1:c.765+4A>C	NP_000432.1:n.765+4A>C
XM_005250425.1:c.765+4A>C	XP_005250482.1:n.765+4A>C
XM_006716025.2:c.765+4A>C	XP_006716088.1:n.765+4A>C
XM_005250425.2:c.765+4A>C	XP_005250482.1:n.765+4A>C
XM_006716025.3:c.765+4A>C	XP_006716088.1:n.765+4A>C
XM_017012318.1:c.765+4A>C	XP_016867807.1:n.765+4A>C
NM_000441.2:c.765+4A>C MANE Select	NP_000432.1:n.765+4A>C