Canonical Allele Identifier: CA463449657

Gene: SLC39A4

Linked Data

• ClinVar Variation Id: 2080625
• ClinVar RCV Id: RCV003002066
• gnomAD v4: 8-144414340-G-C
• MyVariant Identifiers: chr8:g.145639724G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144414340G>C , CM000670.2:g.144414340G>C	GRCh38
NC_000008.10:g.145639724G>C , CM000670.1:g.145639724G>C	GRCh37
NC_000008.9:g.145610532G>C	NCBI36
NG_012234.2:g.7551C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301305.8:c.1071C>G MANE Select	ENSP00000301305.4:p.Thr357=
ENST00000276833.9:c.996C>G	ENSP00000276833.5:p.Thr332=
ENST00000301305.7:c.1071C>G	ENSP00000301305.3:p.Thr357=
NM_017767.2:c.996C>G	NP_060237.2:p.Thr332=
NM_130849.3:c.1071C>G	NP_570901.2:p.Thr357=
XM_006716599.1:c.1071C>G	XP_006716662.1:p.Thr357=
XM_011517153.1:c.789C>G	XP_011515455.1:p.Thr263=
XM_024447188.1:c.789C>G	XP_024302956.1:p.Thr263=
XM_024447189.1:c.789C>G	XP_024302957.1:p.Thr263=
NM_001374839.1:c.789C>G	NP_001361768.1:p.Thr263=
NM_017767.3:c.996C>G	NP_060237.3:p.Thr332=
NM_130849.4:c.1071C>G MANE Select	NP_570901.3:p.Thr357=