Canonical Allele Identifier: CA4941412
Gene: SLC39A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 960080
ClinVar RCV Id: RCV001233539
dbSNP Id: rs781852691
ExAC: 8:145639728 A / AC
gnomAD v2: 8-145639728-A-AC
gnomAD v4: 8-144414344-A-AC
MyVariant Identifiers: chr8:g.145639729_145639730insC (hg19) chr8:g.145639728_145639729insC (hg19) chr8:g.144414345_144414346insC (hg38) chr8:g.144414344_144414345insC (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000301305.8:c.1066dup MANE Select ENSP00000301305.4:p.Val356GlyfsTer?
ENST00000276833.9:c.991dup ENSP00000276833.5:p.Val331GlyfsTer?
ENST00000301305.7:c.1066dup ENSP00000301305.3:p.Val356GlyfsTer?
NM_017767.2:c.991dup NP_060237.2:p.Val331GlyfsTer?
NM_130849.3:c.1066dup NP_570901.2:p.Val356GlyfsTer?
XM_006716599.1:c.1066dup XP_006716662.1:p.Val356GlyfsTer?
XM_011517153.1:c.784dup XP_011515455.1:p.Val262GlyfsTer?
XM_024447188.1:c.784dup XP_024302956.1:p.Val262GlyfsTer?
XM_024447189.1:c.784dup XP_024302957.1:p.Val262GlyfsTer?
NM_001374839.1:c.784dup NP_001361768.1:p.Val262GlyfsTer?
NM_017767.3:c.991dup NP_060237.3:p.Val331GlyfsTer?
NM_130849.4:c.1066dup MANE Select NP_570901.3:p.Val356GlyfsTer?
Search 100 bp 5'
Search 100 bp 3'