Canonical Allele Identifier: CA4432644

Gene: SLC26A4

Linked Data

• ClinVar Variation Id: 2918199
• ClinVar RCV Id: RCV003737978
• dbSNP Id: rs750924065
• ExAC: 7:107323997 C / T
• gnomAD v2: 7-107323997-C-T
• gnomAD v3: 7-107683552-C-T
• gnomAD v4: 7-107683552-C-T
• MyVariant Identifiers: chr7:g.107323997C>T (hg19) ; chr7:g.107683552C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107683552C>T , CM000669.2:g.107683552C>T	GRCh38
NC_000007.13:g.107323997C>T , CM000669.1:g.107323997C>T	GRCh37
NC_000007.12:g.107111233C>T	NCBI36
NG_008489.1:g.27918C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000644269.2:c.1001+15C>T MANE Select	ENSP00000494017.1:n.1001+15C>T
ENST00000265715.7:c.1001+15C>T	ENSP00000265715.3:n.1001+15C>T
NM_000441.1:c.1001+15C>T	NP_000432.1:n.1001+15C>T
XM_005250425.1:c.1001+15C>T	XP_005250482.1:n.1001+15C>T
XM_006716025.2:c.1001+15C>T	XP_006716088.1:n.1001+15C>T
XM_005250425.2:c.1001+15C>T	XP_005250482.1:n.1001+15C>T
XM_006716025.3:c.1001+15C>T	XP_006716088.1:n.1001+15C>T
XM_017012318.1:c.1001+15C>T	XP_016867807.1:n.1001+15C>T
NM_000441.2:c.1001+15C>T MANE Select	NP_000432.1:n.1001+15C>T