Canonical Allele Identifier: CA4853729

Gene: SLC30A8

Linked Data

• dbSNP Id: rs776072348
• ExAC: 8:118184792 C / T
• gnomAD v2: 8-118184792-C-T
• gnomAD v4: 8-117172553-C-T
• MyVariant Identifiers: chr8:g.118184792C>T (hg19) ; chr8:g.117172553C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117172553C>T , CM000670.2:g.117172553C>T	GRCh38
NC_000008.10:g.118184792C>T , CM000670.1:g.118184792C>T	GRCh37
NC_000008.9:g.118253973C>T	NCBI36
NG_016991.1:g.227281C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000456015.7:c.982C>T MANE Select	ENSP00000415011.2:p.Gln328Ter
ENST00000427715.2:c.835C>T	ENSP00000407505.2:p.Gln279Ter
ENST00000456015.6:c.982C>T	ENSP00000415011.2:p.Gln328Ter
ENST00000519688.5:c.835C>T	ENSP00000431069.1:p.Gln279Ter
ENST00000521243.5:c.835C>T	ENSP00000428545.1:p.Gln279Ter
NM_001172811.1:c.835C>T	NP_001166282.1:p.Gln279Ter
NM_001172813.1:c.835C>T	NP_001166284.1:p.Gln279Ter
NM_001172814.1:c.835C>T	NP_001166285.1:p.Gln279Ter
NM_001172815.1:c.835C>T	NP_001166286.1:p.Gln279Ter
NM_173851.2:c.982C>T	NP_776250.2:p.Gln328Ter
XM_011516881.1:c.982C>T	XP_011515183.1:p.Gln328Ter
XM_011516882.1:c.835C>T	XP_011515184.1:p.Gln279Ter
XR_928569.1:n.1020+62G>A
XR_928570.1:n.1020+62G>A
NM_001172815.2:c.835C>T	NP_001166286.1:p.Gln279Ter
XM_024447083.1:c.835C>T	XP_024302851.1:p.Gln279Ter
XR_928569.2:n.973+62G>A
XR_928570.2:n.973+62G>A
NM_001172811.2:c.835C>T	NP_001166282.1:p.Gln279Ter
NM_001172813.2:c.835C>T	NP_001166284.1:p.Gln279Ter
NM_001172814.2:c.835C>T	NP_001166285.1:p.Gln279Ter
NM_173851.3:c.982C>T MANE Select	NP_776250.2:p.Gln328Ter
NM_001172815.3:c.835C>T	NP_001166286.1:p.Gln279Ter