Canonical Allele Identifier: CA1732755301
Gene: SLC26A4 HGNC NCBI

Linked Data

dbSNP Id: rs1792320631
gnomAD v4: 7-107715417-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107715417C>A , CM000669.2:g.107715417C>A GRCh38
NC_000007.13:g.107355862C>A , CM000669.1:g.107355862C>A GRCh37
NC_000007.12:g.107143098C>A NCBI36
NG_008489.1:g.59783C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000644269.2:c.2320-6C>A MANE Select ENSP00000494017.1:n.2320-6C>A
ENST00000644846.1:c.976-6C>A
ENST00000265715.7:c.2320-6C>A ENSP00000265715.3:n.2320-6C>A
ENST00000492030.2:n.506-6C>A
NM_000441.1:c.2320-6C>A NP_000432.1:n.2320-6C>A
XM_005250425.1:c.2320-6C>A XP_005250482.1:n.2320-6C>A
XM_005250425.2:c.2320-6C>A XP_005250482.1:n.2320-6C>A
XM_017012318.1:c.2242-6C>A XP_016867807.1:n.2242-6C>A
NM_000441.2:c.2320-6C>A MANE Select NP_000432.1:n.2320-6C>A
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