Canonical Allele Identifier: CA368831680

Gene: SLC26A4

Linked Data

• MyVariant Identifiers: chr7:g.107315508T>G (hg19) ; chr7:g.107675063T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107675063T>G , CM000669.2:g.107675063T>G	GRCh38
NC_000007.13:g.107315508T>G , CM000669.1:g.107315508T>G	GRCh37
NC_000007.12:g.107102744T>G	NCBI36
NG_008489.1:g.19429T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000644269.2:c.719T>G MANE Select	ENSP00000494017.1:p.Leu240Arg
ENST00000265715.7:c.719T>G	ENSP00000265715.3:p.Leu240Arg
NM_000441.1:c.719T>G	NP_000432.1:p.Leu240Arg
XM_005250425.1:c.719T>G	XP_005250482.1:p.Leu240Arg
XM_006716025.2:c.719T>G	XP_006716088.1:p.Leu240Arg
XM_005250425.2:c.719T>G	XP_005250482.1:p.Leu240Arg
XM_006716025.3:c.719T>G	XP_006716088.1:p.Leu240Arg
XM_017012318.1:c.719T>G	XP_016867807.1:p.Leu240Arg
NM_000441.2:c.719T>G MANE Select	NP_000432.1:p.Leu240Arg