Canonical Allele Identifier: CA4432884

Gene: SLC26A4

Linked Data

• ClinVar Variation Id: 2810952
• ClinVar RCV Id: RCV003682664
• dbSNP Id: rs553833553
• ExAC: 7:107338565 C / A
• gnomAD v2: 7-107338565-C-A
• gnomAD v3: 7-107698120-C-A
• gnomAD v4: 7-107698120-C-A
• MyVariant Identifiers: chr7:g.107338565C>A (hg19) ; chr7:g.107698120C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107698120C>A , CM000669.2:g.107698120C>A	GRCh38
NC_000007.13:g.107338565C>A , CM000669.1:g.107338565C>A	GRCh37
NC_000007.12:g.107125801C>A	NCBI36
NG_008489.1:g.42486C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644269.2:c.1614+9C>A MANE Select	ENSP00000494017.1:n.1614+9C>A
ENST00000644846.1:c.325+9C>A
ENST00000265715.7:c.1614+9C>A	ENSP00000265715.3:n.1614+9C>A
ENST00000477350.5:n.461+9C>A
ENST00000480841.5:n.463+9C>A
NM_000441.1:c.1614+9C>A	NP_000432.1:n.1614+9C>A
XM_005250425.1:c.1614+9C>A	XP_005250482.1:n.1614+9C>A
XM_005250425.2:c.1614+9C>A	XP_005250482.1:n.1614+9C>A
XM_017012318.1:c.1536+9C>A	XP_016867807.1:n.1536+9C>A
NM_000441.2:c.1614+9C>A MANE Select	NP_000432.1:n.1614+9C>A