Canonical Allele Identifier: CA4941328

Gene: SLC39A4

Linked Data

• ClinVar Variation Id: 762895
• ClinVar RCV Id: RCV000941083 ; RCV001275495
• dbSNP Id: rs199542349
• ExAC: 8:145639425 G / A
• gnomAD v2: 8-145639425-G-A
• gnomAD v3: 8-144414041-G-A
• gnomAD v4: 8-144414041-G-A
• MyVariant Identifiers: chr8:g.145639425G>A (hg19) ; chr8:g.144414041G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144414041G>A , CM000670.2:g.144414041G>A	GRCh38
NC_000008.10:g.145639425G>A , CM000670.1:g.145639425G>A	GRCh37
NC_000008.9:g.145610233G>A	NCBI36
NG_012234.2:g.7850C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301305.8:c.1204C>T MANE Select	ENSP00000301305.4:p.Arg402Cys
ENST00000276833.9:c.1129C>T	ENSP00000276833.5:p.Arg377Cys
ENST00000301305.7:c.1204C>T	ENSP00000301305.3:p.Arg402Cys
ENST00000531789.1:n.41C>T
NM_017767.2:c.1129C>T	NP_060237.2:p.Arg377Cys
NM_130849.3:c.1204C>T	NP_570901.2:p.Arg402Cys
XM_006716599.1:c.1204C>T	XP_006716662.1:p.Arg402Cys
XM_011517153.1:c.922C>T	XP_011515455.1:p.Arg308Cys
XM_024447188.1:c.922C>T	XP_024302956.1:p.Arg308Cys
XM_024447189.1:c.922C>T	XP_024302957.1:p.Arg308Cys
NM_001374839.1:c.922C>T	NP_001361768.1:p.Arg308Cys
NM_017767.3:c.1129C>T	NP_060237.3:p.Arg377Cys
NM_130849.4:c.1204C>T MANE Select	NP_570901.3:p.Arg402Cys