Canonical Allele Identifier: CA463556078

Gene: SLC39A4

Linked Data

• ClinVar Variation Id: 798437
• ClinVar RCV Id: RCV000981981 ; RCV001275494
• dbSNP Id: rs782097184
• gnomAD v2: 8-145639372-G-C
• gnomAD v4: 8-144413988-G-C
• MyVariant Identifiers: chr8:g.145639372G>C (hg19) ; chr8:g.144413988G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144413988G>C , CM000670.2:g.144413988G>C	GRCh38
NC_000008.10:g.145639372G>C , CM000670.1:g.145639372G>C	GRCh37
NC_000008.9:g.145610180G>C	NCBI36
NG_012234.2:g.7903C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301305.8:c.1257C>G MANE Select	ENSP00000301305.4:p.Leu419=
ENST00000276833.9:c.1182C>G	ENSP00000276833.5:p.Leu394=
ENST00000301305.7:c.1257C>G	ENSP00000301305.3:p.Leu419=
ENST00000531789.1:n.94C>G
NM_017767.2:c.1182C>G	NP_060237.2:p.Leu394=
NM_130849.3:c.1257C>G	NP_570901.2:p.Leu419=
XM_006716599.1:c.1257C>G	XP_006716662.1:p.Leu419=
XM_011517153.1:c.975C>G	XP_011515455.1:p.Leu325=
XM_024447188.1:c.975C>G	XP_024302956.1:p.Leu325=
XM_024447189.1:c.975C>G	XP_024302957.1:p.Leu325=
NM_001374839.1:c.975C>G	NP_001361768.1:p.Leu325=
NM_017767.3:c.1182C>G	NP_060237.3:p.Leu394=
NM_130849.4:c.1257C>G MANE Select	NP_570901.3:p.Leu419=