Canonical Allele Identifier: CA261402

Gene: SLC26A4

Linked Data

• ClinVar Variation Id: 43497
• ClinVar RCV Id: RCV000036429 ; RCV001291346 ; RCV001814025 ; RCV002513381 ; RCV003473263
• dbSNP Id: rs111033305
• gnomAD v2: 7-107330645-G-C
• gnomAD v3: 7-107690200-G-C
• gnomAD v4: 7-107690200-G-C
• MyVariant Identifiers: chr7:g.107330645G>C (hg19) ; chr7:g.107690200G>C (hg38)
• PubMed: PMID:12676893

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107690200G>C , CM000669.2:g.107690200G>C	GRCh38
NC_000007.13:g.107330645G>C , CM000669.1:g.107330645G>C	GRCh37
NC_000007.12:g.107117881G>C	NCBI36
NG_008489.1:g.34566G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644269.2:c.1226G>C MANE Select	ENSP00000494017.1:p.Arg409Pro
ENST00000265715.7:c.1226G>C	ENSP00000265715.3:p.Arg409Pro
NM_000441.1:c.1226G>C	NP_000432.1:p.Arg409Pro
XM_005250425.1:c.1226G>C	XP_005250482.1:p.Arg409Pro
XM_006716025.2:c.1226G>C	XP_006716088.1:p.Arg409Pro
XM_005250425.2:c.1226G>C	XP_005250482.1:p.Arg409Pro
XM_006716025.3:c.1226G>C	XP_006716088.1:p.Arg409Pro
XM_017012318.1:c.1226G>C	XP_016867807.1:p.Arg409Pro
NM_000441.2:c.1226G>C MANE Select	NP_000432.1:p.Arg409Pro