Canonical Allele Identifier: CA4941329

Gene: SLC39A4

Linked Data

• ClinVar Variation Id: 1114166
• ClinVar RCV Id: RCV001441800
• dbSNP Id: rs4527921
• ExAC: 8:145639438 T / C
• gnomAD v2: 8-145639438-T-C
• gnomAD v3: 8-144414054-T-C
• gnomAD v4: 8-144414054-T-C
• MyVariant Identifiers: chr8:g.145639438T>C (hg19) ; chr8:g.144414054T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144414054T>C , CM000670.2:g.144414054T>C	GRCh38
NC_000008.10:g.145639438T>C , CM000670.1:g.145639438T>C	GRCh37
NC_000008.9:g.145610246T>C	NCBI36
NG_012234.2:g.7837A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301305.8:c.1191A>G MANE Select	ENSP00000301305.4:p.Pro397=
ENST00000276833.9:c.1116A>G	ENSP00000276833.5:p.Pro372=
ENST00000301305.7:c.1191A>G	ENSP00000301305.3:p.Pro397=
ENST00000531789.1:n.28A>G
NM_017767.2:c.1116A>G	NP_060237.2:p.Pro372=
NM_130849.3:c.1191A>G	NP_570901.2:p.Pro397=
XM_006716599.1:c.1191A>G	XP_006716662.1:p.Pro397=
XM_011517153.1:c.909A>G	XP_011515455.1:p.Pro303=
XM_024447188.1:c.909A>G	XP_024302956.1:p.Pro303=
XM_024447189.1:c.909A>G	XP_024302957.1:p.Pro303=
NM_001374839.1:c.909A>G	NP_001361768.1:p.Pro303=
NM_017767.3:c.1116A>G	NP_060237.3:p.Pro372=
NM_130849.4:c.1191A>G MANE Select	NP_570901.3:p.Pro397=