Canonical Allele Identifier: CA341171287

Gene: SLC30A7

Linked Data

• dbSNP Id: rs1254729570
• gnomAD v4: 1-100912223-C-T
• COSMIC: COSM893012
• MyVariant Identifiers: chr1:g.101377779C>T (hg19) ; chr1:g.100912223C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.100912223C>T , CM000663.2:g.100912223C>T	GRCh38
NC_000001.10:g.101377779C>T , CM000663.1:g.101377779C>T	GRCh37
NC_000001.9:g.101150367C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000357650.9:c.496C>T MANE Select	ENSP00000350278.4:p.His166Tyr
ENST00000357650.8:c.496C>T	ENSP00000350278.4:p.His166Tyr
ENST00000370112.8:c.496C>T	ENSP00000359130.4:p.His166Tyr
NM_001144884.1:c.496C>T	NP_001138356.1:p.His166Tyr
NM_133496.4:c.496C>T	NP_598003.2:p.His166Tyr
XM_011540779.1:c.286C>T	XP_011539081.1:p.His96Tyr
XR_246237.2:n.681C>T
XM_011540779.3:c.286C>T	XP_011539081.1:p.His96Tyr
XM_017000400.2:c.496C>T	XP_016855889.1:p.His166Tyr
XM_017000401.2:c.496C>T	XP_016855890.1:p.His166Tyr
XR_246237.3:n.667C>T
NM_133496.5:c.496C>T MANE Select	NP_598003.2:p.His166Tyr
NM_001144884.2:c.496C>T	NP_001138356.1:p.His166Tyr