Canonical Allele Identifier: CA184330902

Gene: SLC30A8

Linked Data

• dbSNP Id: rs901175010
• gnomAD v4: 8-117172821-G-C
• MyVariant Identifiers: chr8:g.118185060G>C (hg19) ; chr8:g.117172821G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117172821G>C , CM000670.2:g.117172821G>C	GRCh38
NC_000008.10:g.118185060G>C , CM000670.1:g.118185060G>C	GRCh37
NC_000008.9:g.118254241G>C	NCBI36
NG_016991.1:g.227549G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000456015.7:c.*140G>C MANE Select	ENSP00000415011.2:n.*140G>C
ENST00000427715.2:c.*140G>C	ENSP00000407505.2:n.*140G>C
ENST00000456015.6:c.1250G>C	ENSP00000415011.2:n.1250G>C
ENST00000519688.5:c.*140G>C	ENSP00000431069.1:n.*140G>C
NM_001172811.1:c.*140G>C	NP_001166282.1:n.*140G>C
NM_001172813.1:c.*140G>C	NP_001166284.1:n.*140G>C
NM_001172814.1:c.*140G>C	NP_001166285.1:n.*140G>C
NM_001172815.1:c.*140G>C	NP_001166286.1:n.*140G>C
NM_173851.2:c.*140G>C	NP_776250.2:n.*140G>C
XM_011516881.1:c.*140G>C	XP_011515183.1:n.*140G>C
XM_011516882.1:c.*140G>C	XP_011515184.1:n.*140G>C
XR_928569.1:n.890-76C>G
XR_928570.1:n.890-76C>G
NM_001172815.2:c.*140G>C	NP_001166286.1:n.*140G>C
XM_024447083.1:c.*140G>C	XP_024302851.1:n.*140G>C
XR_928569.2:n.843-76C>G
XR_928570.2:n.843-76C>G
NM_001172811.2:c.*140G>C	NP_001166282.1:n.*140G>C
NM_001172813.2:c.*140G>C	NP_001166284.1:n.*140G>C
NM_001172814.2:c.*140G>C	NP_001166285.1:n.*140G>C
NM_173851.3:c.*140G>C MANE Select	NP_776250.2:n.*140G>C
NM_001172815.3:c.*140G>C	NP_001166286.1:n.*140G>C