Canonical Allele Identifier: CA164215545

Gene: SLC26A4

Linked Data

• dbSNP Id: rs936266941
• gnomAD v3: 7-107696374-T-C
• gnomAD v4: 7-107696374-T-C
• MyVariant Identifiers: chr7:g.107336819T>C (hg19) ; chr7:g.107696374T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107696374T>C , CM000669.2:g.107696374T>C	GRCh38
NC_000007.13:g.107336819T>C , CM000669.1:g.107336819T>C	GRCh37
NC_000007.12:g.107124055T>C	NCBI36
NG_008489.1:g.40740T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644269.2:c.1544+335T>C MANE Select	ENSP00000494017.1:n.1544+335T>C
ENST00000644846.1:c.255+335T>C
ENST00000265715.7:c.1544+335T>C	ENSP00000265715.3:n.1544+335T>C
ENST00000477350.5:n.391+335T>C
ENST00000480841.5:n.393+335T>C
NM_000441.1:c.1544+335T>C	NP_000432.1:n.1544+335T>C
XM_005250425.1:c.1544+335T>C	XP_005250482.1:n.1544+335T>C
XM_005250425.2:c.1544+335T>C	XP_005250482.1:n.1544+335T>C
XM_017012318.1:c.1466+335T>C	XP_016867807.1:n.1466+335T>C
NM_000441.2:c.1544+335T>C MANE Select	NP_000432.1:n.1544+335T>C