Canonical Allele Identifier: CA16041102

Gene: SLC26A4

Linked Data

• ClinVar Variation Id: 371079
• ClinVar RCV Id: RCV000410577 ; RCV000579267 ; RCV002481264
• dbSNP Id: rs1057516988
• gnomAD v2: 7-107314608-G-A
• gnomAD v4: 7-107674163-G-A
• MyVariant Identifiers: chr7:g.107314608G>A (hg19) ; chr7:g.107674163G>A (hg38)
• PubMed: PMID:17940114 ; PMID:18250610 ; PMID:24599119 ; PMID:26100058

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107674163G>A , CM000669.2:g.107674163G>A	GRCh38
NC_000007.13:g.107314608G>A , CM000669.1:g.107314608G>A	GRCh37
NC_000007.12:g.107101844G>A	NCBI36
NG_008489.1:g.18529G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000644269.2:c.416-1G>A MANE Select	ENSP00000494017.1:n.416-1G>A
ENST00000265715.7:c.416-1G>A	ENSP00000265715.3:n.416-1G>A
NM_000441.1:c.416-1G>A	NP_000432.1:n.416-1G>A
XM_005250425.1:c.416-1G>A	XP_005250482.1:n.416-1G>A
XM_006716025.2:c.416-1G>A	XP_006716088.1:n.416-1G>A
XM_005250425.2:c.416-1G>A	XP_005250482.1:n.416-1G>A
XM_006716025.3:c.416-1G>A	XP_006716088.1:n.416-1G>A
XM_017012318.1:c.416-1G>A	XP_016867807.1:n.416-1G>A
NM_000441.2:c.416-1G>A MANE Select	NP_000432.1:n.416-1G>A