Canonical Allele Identifier: CA273224

Gene: SLC26A4 SLC26A4-AS1

Linked Data

• ClinVar Variation Id: 165245
• ClinVar RCV Id: RCV000151882 ; RCV003155090
• dbSNP Id: rs727503425
• gnomAD v2: 7-107301305-G-A
• gnomAD v3: 7-107660860-G-A
• gnomAD v4: 7-107660860-G-A
• MyVariant Identifiers: chr7:g.107301305G>A (hg19) ; chr7:g.107660860G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107660860G>A , CM000669.2:g.107660860G>A	GRCh38
NC_000007.13:g.107301305G>A , CM000669.1:g.107301305G>A	GRCh37
NC_000007.12:g.107088541G>A	NCBI36
NG_008489.1:g.5226G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000644269.2:c.-4+5G>A (SLC26A4) MANE Select	ENSP00000494017.1:n.-4+5G>A
ENST00000265715.7:c.-4+5G>A (SLC26A4)	ENSP00000265715.3:n.-4+5G>A
NM_000441.1:c.-4+5G>A (SLC26A4)	NP_000432.1:n.-4+5G>A
NR_028137.1:n.198-654C>T (SLC26A4-AS1)
NM_000441.2:c.-4+5G>A (SLC26A4) MANE Select	NP_000432.1:n.-4+5G>A