Canonical Allele Identifier: CA4432622

Gene: SLC26A4

Linked Data

• dbSNP Id: rs773118355
• ExAC: 7:107323865 C / A
• gnomAD v2: 7-107323865-C-A
• gnomAD v3: 7-107683420-C-A
• gnomAD v4: 7-107683420-C-A
• MyVariant Identifiers: chr7:g.107323865C>A (hg19) ; chr7:g.107683420C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107683420C>A , CM000669.2:g.107683420C>A	GRCh38
NC_000007.13:g.107323865C>A , CM000669.1:g.107323865C>A	GRCh37
NC_000007.12:g.107111101C>A	NCBI36
NG_008489.1:g.27786C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644269.2:c.919-35C>A MANE Select	ENSP00000494017.1:n.919-35C>A
ENST00000265715.7:c.919-35C>A	ENSP00000265715.3:n.919-35C>A
NM_000441.1:c.919-35C>A	NP_000432.1:n.919-35C>A
XM_005250425.1:c.919-35C>A	XP_005250482.1:n.919-35C>A
XM_006716025.2:c.919-35C>A	XP_006716088.1:n.919-35C>A
XM_005250425.2:c.919-35C>A	XP_005250482.1:n.919-35C>A
XM_006716025.3:c.919-35C>A	XP_006716088.1:n.919-35C>A
XM_017012318.1:c.919-35C>A	XP_016867807.1:n.919-35C>A
NM_000441.2:c.919-35C>A MANE Select	NP_000432.1:n.919-35C>A