Canonical Allele Identifier: CA463449612

Gene: SLC39A4

Linked Data

• ClinVar Variation Id: 2858411
• ClinVar RCV Id: RCV003699352
• dbSNP Id: rs1822065734
• gnomAD v4: 8-144414301-A-G
• MyVariant Identifiers: chr8:g.145639685A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144414301A>G , CM000670.2:g.144414301A>G	GRCh38
NC_000008.10:g.145639685A>G , CM000670.1:g.145639685A>G	GRCh37
NC_000008.9:g.145610493A>G	NCBI36
NG_012234.2:g.7590T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301305.8:c.1110T>C MANE Select	ENSP00000301305.4:p.Gly370=
ENST00000276833.9:c.1035T>C	ENSP00000276833.5:p.Gly345=
ENST00000301305.7:c.1110T>C	ENSP00000301305.3:p.Gly370=
NM_017767.2:c.1035T>C	NP_060237.2:p.Gly345=
NM_130849.3:c.1110T>C	NP_570901.2:p.Gly370=
XM_006716599.1:c.1110T>C	XP_006716662.1:p.Gly370=
XM_011517153.1:c.828T>C	XP_011515455.1:p.Gly276=
XM_024447188.1:c.828T>C	XP_024302956.1:p.Gly276=
XM_024447189.1:c.828T>C	XP_024302957.1:p.Gly276=
NM_001374839.1:c.828T>C	NP_001361768.1:p.Gly276=
NM_017767.3:c.1035T>C	NP_060237.3:p.Gly345=
NM_130849.4:c.1110T>C MANE Select	NP_570901.3:p.Gly370=