Canonical Allele Identifier: CA2580078709

Gene: SLC39A4

Linked Data

• ClinVar Variation Id: 3543
• ClinVar RCV Id: RCV000003721
• dbSNP Id: rs2130797713

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144414342_144414394dup , CM000670.2:g.144414342_144414394dup	GRCh38
NC_000008.10:g.145639726_145639778dup , CM000670.1:g.145639726_145639778dup	GRCh37
NC_000008.9:g.145610534_145610586dup	NCBI36
NG_012234.2:g.7498_7550dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301305.8:c.1018_1070dup MANE Select	ENSP00000301305.4:p.His358AlafsTer9
ENST00000276833.9:c.943_995dup	ENSP00000276833.5:p.His333AlafsTer9
ENST00000301305.7:c.1018_1070dup	ENSP00000301305.3:p.His358AlafsTer9
NM_017767.2:c.943_995dup	NP_060237.2:p.His333AlafsTer9
NM_130849.3:c.1018_1070dup	NP_570901.2:p.His358AlafsTer9
XM_006716599.1:c.1018_1070dup	XP_006716662.1:p.His358AlafsTer9
XM_011517153.1:c.736_788dup	XP_011515455.1:p.His264AlafsTer9
XM_024447188.1:c.736_788dup	XP_024302956.1:p.His264AlafsTer9
XM_024447189.1:c.736_788dup	XP_024302957.1:p.His264AlafsTer9
NM_001374839.1:c.736_788dup	NP_001361768.1:p.His264AlafsTer9
NM_017767.3:c.943_995dup	NP_060237.3:p.His333AlafsTer9
NM_130849.4:c.1018_1070dup MANE Select	NP_570901.3:p.His358AlafsTer9