Canonical Allele Identifier: CA4432685

Gene: SLC26A4

Linked Data

• ClinVar Variation Id: 1685126
• ClinVar RCV Id: RCV002248218 ; RCV002488628 ; RCV003560883
• dbSNP Id: rs148425972
• ExAC: 7:107329620 A / G
• gnomAD v2: 7-107329620-A-G
• gnomAD v3: 7-107689175-A-G
• gnomAD v4: 7-107689175-A-G
• MyVariant Identifiers: chr7:g.107329620A>G (hg19) ; chr7:g.107689175A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107689175A>G , CM000669.2:g.107689175A>G	GRCh38
NC_000007.13:g.107329620A>G , CM000669.1:g.107329620A>G	GRCh37
NC_000007.12:g.107116856A>G	NCBI36
NG_008489.1:g.33541A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644269.2:c.1124A>G MANE Select	ENSP00000494017.1:p.Tyr375Cys
ENST00000265715.7:c.1124A>G	ENSP00000265715.3:p.Tyr375Cys
NM_000441.1:c.1124A>G	NP_000432.1:p.Tyr375Cys
XM_005250425.1:c.1124A>G	XP_005250482.1:p.Tyr375Cys
XM_006716025.2:c.1124A>G	XP_006716088.1:p.Tyr375Cys
XM_005250425.2:c.1124A>G	XP_005250482.1:p.Tyr375Cys
XM_006716025.3:c.1124A>G	XP_006716088.1:p.Tyr375Cys
XM_017012318.1:c.1124A>G	XP_016867807.1:p.Tyr375Cys
NM_000441.2:c.1124A>G MANE Select	NP_000432.1:p.Tyr375Cys