Canonical Allele Identifier: CA586164241

Gene: SLC39A4

Linked Data

• ClinVar Variation Id: 1075429
• ClinVar RCV Id: RCV001389028 ; RCV001780371
• dbSNP Id: rs781852691
• gnomAD v2: 8-145639728-AC-A
• gnomAD v3: 8-144414344-AC-A
• gnomAD v4: 8-144414344-AC-A
• COSMIC: COSM4612496 ; COSM4612497
• MyVariant Identifiers: chr8:g.145639729del (hg19) ; chr8:g.144414345del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144414350del , CM000670.2:g.144414350del	GRCh38
NC_000008.10:g.145639734del , CM000670.1:g.145639734del	GRCh37
NC_000008.9:g.145610542del	NCBI36
NG_012234.2:g.7546del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301305.8:c.1066del MANE Select	ENSP00000301305.4:p.Val356SerfsTer10
ENST00000276833.9:c.991del	ENSP00000276833.5:p.Val331SerfsTer10
ENST00000301305.7:c.1066del	ENSP00000301305.3:p.Val356SerfsTer10
NM_017767.2:c.991del	NP_060237.2:p.Val331SerfsTer10
NM_130849.3:c.1066del	NP_570901.2:p.Val356SerfsTer10
XM_006716599.1:c.1066del	XP_006716662.1:p.Val356SerfsTer10
XM_011517153.1:c.784del	XP_011515455.1:p.Val262SerfsTer10
XM_024447188.1:c.784del	XP_024302956.1:p.Val262SerfsTer10
XM_024447189.1:c.784del	XP_024302957.1:p.Val262SerfsTer10
NM_001374839.1:c.784del	NP_001361768.1:p.Val262SerfsTer10
NM_017767.3:c.991del	NP_060237.3:p.Val331SerfsTer10
NM_130849.4:c.1066del MANE Select	NP_570901.3:p.Val356SerfsTer10