Canonical Allele Identifier: CA4941322

Gene: SLC39A4

Linked Data

• ClinVar Variation Id: 2141319
• ClinVar RCV Id: RCV003056899
• dbSNP Id: rs782695425
• ExAC: 8:145639404 CG / C
• gnomAD v2: 8-145639404-CG-C
• gnomAD v4: 8-144414020-CG-C
• MyVariant Identifiers: chr8:g.145639405del (hg19) ; chr8:g.144414022del (hg38) ; chr8:g.144414021del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144414022del , CM000670.2:g.144414022del	GRCh38
NC_000008.10:g.145639406del , CM000670.1:g.145639406del	GRCh37
NC_000008.9:g.145610214del	NCBI36
NG_012234.2:g.7870del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301305.8:c.1224del MANE Select	ENSP00000301305.4:p.Leu410SerfsTer?
ENST00000276833.9:c.1149del	ENSP00000276833.5:p.Leu385SerfsTer?
ENST00000301305.7:c.1224del	ENSP00000301305.3:p.Leu410SerfsTer?
ENST00000531789.1:n.61del
NM_017767.2:c.1149del	NP_060237.2:p.Leu385SerfsTer?
NM_130849.3:c.1224del	NP_570901.2:p.Leu410SerfsTer?
XM_006716599.1:c.1224del	XP_006716662.1:p.Leu410SerfsTer?
XM_011517153.1:c.942del	XP_011515455.1:p.Leu316SerfsTer?
XM_024447188.1:c.942del	XP_024302956.1:p.Leu316SerfsTer?
XM_024447189.1:c.942del	XP_024302957.1:p.Leu316SerfsTer?
NM_001374839.1:c.942del	NP_001361768.1:p.Leu316SerfsTer?
NM_017767.3:c.1149del	NP_060237.3:p.Leu385SerfsTer?
NM_130849.4:c.1224del MANE Select	NP_570901.3:p.Leu410SerfsTer?