Canonical Allele Identifier: CA457090734

Gene: SLC26A4

Linked Data

• dbSNP Id: rs1791527830
• gnomAD v4: 7-107690192-T-C
• MyVariant Identifiers: chr7:g.107330637T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107690192T>C , CM000669.2:g.107690192T>C	GRCh38
NC_000007.13:g.107330637T>C , CM000669.1:g.107330637T>C	GRCh37
NC_000007.12:g.107117873T>C	NCBI36
NG_008489.1:g.34558T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644269.2:c.1218T>C MANE Select	ENSP00000494017.1:p.Ala406=
ENST00000265715.7:c.1218T>C	ENSP00000265715.3:p.Ala406=
NM_000441.1:c.1218T>C	NP_000432.1:p.Ala406=
XM_005250425.1:c.1218T>C	XP_005250482.1:p.Ala406=
XM_006716025.2:c.1218T>C	XP_006716088.1:p.Ala406=
XM_005250425.2:c.1218T>C	XP_005250482.1:p.Ala406=
XM_006716025.3:c.1218T>C	XP_006716088.1:p.Ala406=
XM_017012318.1:c.1218T>C	XP_016867807.1:p.Ala406=
NM_000441.2:c.1218T>C MANE Select	NP_000432.1:p.Ala406=