Canonical Allele Identifier: CA261412

Gene: SLC26A4

Linked Data

• ClinVar Variation Id: 43508
• ClinVar RCV Id: RCV000036442 ; RCV000410548 ; RCV001056726 ; RCV001785460 ; RCV003398600
• dbSNP Id: rs397516418
• gnomAD v4: 7-107694718-T-G
• MyVariant Identifiers: chr7:g.107335163T>G (hg19) ; chr7:g.107694718T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107694718T>G , CM000669.2:g.107694718T>G	GRCh38
NC_000007.13:g.107335163T>G , CM000669.1:g.107335163T>G	GRCh37
NC_000007.12:g.107122399T>G	NCBI36
NG_008489.1:g.39084T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000644269.2:c.1437+2T>G MANE Select	ENSP00000494017.1:n.1437+2T>G
ENST00000644846.1:c.148+2T>G
ENST00000265715.7:c.1437+2T>G	ENSP00000265715.3:n.1437+2T>G
ENST00000460748.1:n.540+2T>G
ENST00000477350.5:n.284+2T>G
ENST00000480841.5:n.286+2T>G
ENST00000497446.5:n.452+2T>G
NM_000441.1:c.1437+2T>G	NP_000432.1:n.1437+2T>G
XM_005250425.1:c.1437+2T>G	XP_005250482.1:n.1437+2T>G
XM_005250425.2:c.1437+2T>G	XP_005250482.1:n.1437+2T>G
XM_017012318.1:c.1359+2T>G	XP_016867807.1:n.1359+2T>G
NM_000441.2:c.1437+2T>G MANE Select	NP_000432.1:n.1437+2T>G