Canonical Allele Identifier: CA4434160

Gene: SLC26A3

Linked Data

• ClinVar Variation Id: 776252
• ClinVar RCV Id: RCV000956521 ; RCV001158759
• dbSNP Id: rs73419912
• ExAC: 7:107432300 G / A
• gnomAD v2: 7-107432300-G-A
• gnomAD v3: 7-107791855-G-A
• gnomAD v4: 7-107791855-G-A
• MyVariant Identifiers: chr7:g.107432300G>A (hg19) ; chr7:g.107791855G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107791855G>A , CM000669.2:g.107791855G>A	GRCh38
NC_000007.13:g.107432300G>A , CM000669.1:g.107432300G>A	GRCh37
NC_000007.12:g.107219536G>A	NCBI36
NG_008046.1:g.16379C>T , LRG_683:g.16379C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340010.10:c.357C>T MANE Select	ENSP00000345873.5:p.Phe119=
ENST00000340010.9:c.357C>T	ENSP00000345873.5:p.Phe119=
ENST00000379083.7:c.*148C>T	ENSP00000368375.3:n.*148C>T
ENST00000453332.1:c.357C>T	ENSP00000395955.1:p.Phe119=
NM_000111.2:c.357C>T , LRG_683t1:c.357C>T	NP_000102.1:p.Phe119=
XM_011515867.1:c.357C>T	XP_011514169.1:p.Phe119=
NM_000111.3:c.357C>T MANE Select	NP_000102.1:p.Phe119=