Canonical Allele Identifier: CA4434057

Gene: SLC26A3

Linked Data

• ClinVar Variation Id: 358553
• ClinVar RCV Id: RCV000286342 ; RCV001861297 ; RCV002523580
• dbSNP Id: rs145962719
• ExAC: 7:107429993 G / C
• gnomAD v2: 7-107429993-G-C
• gnomAD v3: 7-107789548-G-C
• gnomAD v4: 7-107789548-G-C
• MyVariant Identifiers: chr7:g.107429993G>C (hg19) ; chr7:g.107789548G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107789548G>C , CM000669.2:g.107789548G>C	GRCh38
NC_000007.13:g.107429993G>C , CM000669.1:g.107429993G>C	GRCh37
NC_000007.12:g.107217229G>C	NCBI36
NG_008046.1:g.18686C>G , LRG_683:g.18686C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340010.10:c.711C>G MANE Select	ENSP00000345873.5:p.His237Gln
ENST00000340010.9:c.711C>G	ENSP00000345873.5:p.His237Gln
ENST00000379083.7:c.*502C>G	ENSP00000368375.3:n.*502C>G
NM_000111.2:c.711C>G , LRG_683t1:c.711C>G	NP_000102.1:p.His237Gln
XM_011515867.1:c.711C>G	XP_011514169.1:p.His237Gln
NM_000111.3:c.711C>G MANE Select	NP_000102.1:p.His237Gln