Canonical Allele Identifier: CA463449700

Gene: SLC39A4

Linked Data

• ClinVar Variation Id: 2857863
• ClinVar RCV Id: RCV003704068
• dbSNP Id: rs782166922
• gnomAD v4: 8-144414376-G-C
• MyVariant Identifiers: chr8:g.145639760G>C (hg19) ; chr8:g.144414376G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144414376G>C , CM000670.2:g.144414376G>C	GRCh38
NC_000008.10:g.145639760G>C , CM000670.1:g.145639760G>C	GRCh37
NC_000008.9:g.145610568G>C	NCBI36
NG_012234.2:g.7515C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301305.8:c.1035C>G MANE Select	ENSP00000301305.4:p.Leu345=
ENST00000276833.9:c.960C>G	ENSP00000276833.5:p.Leu320=
ENST00000301305.7:c.1035C>G	ENSP00000301305.3:p.Leu345=
NM_017767.2:c.960C>G	NP_060237.2:p.Leu320=
NM_130849.3:c.1035C>G	NP_570901.2:p.Leu345=
XM_006716599.1:c.1035C>G	XP_006716662.1:p.Leu345=
XM_011517153.1:c.753C>G	XP_011515455.1:p.Leu251=
XM_024447188.1:c.753C>G	XP_024302956.1:p.Leu251=
XM_024447189.1:c.753C>G	XP_024302957.1:p.Leu251=
NM_001374839.1:c.753C>G	NP_001361768.1:p.Leu251=
NM_017767.3:c.960C>G	NP_060237.3:p.Leu320=
NM_130849.4:c.1035C>G MANE Select	NP_570901.3:p.Leu345=