Canonical Allele Identifier: CA187648375

Gene: SLC39A4

Linked Data

• ClinVar Variation Id: 1561430
• ClinVar RCV Id: RCV002211821
• dbSNP Id: rs981954961
• gnomAD v2: 8-145639817-C-T
• gnomAD v4: 8-144414433-C-T
• MyVariant Identifiers: chr8:g.145639817C>T (hg19) ; chr8:g.144414433C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144414433C>T , CM000670.2:g.144414433C>T	GRCh38
NC_000008.10:g.145639817C>T , CM000670.1:g.145639817C>T	GRCh37
NC_000008.9:g.145610625C>T	NCBI36
NG_012234.2:g.7458G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301305.8:c.978G>A MANE Select	ENSP00000301305.4:p.Arg326=
ENST00000276833.9:c.903G>A	ENSP00000276833.5:p.Arg301=
ENST00000301305.7:c.978G>A	ENSP00000301305.3:p.Arg326=
NM_017767.2:c.903G>A	NP_060237.2:p.Arg301=
NM_130849.3:c.978G>A	NP_570901.2:p.Arg326=
XM_006716599.1:c.978G>A	XP_006716662.1:p.Arg326=
XM_011517153.1:c.696G>A	XP_011515455.1:p.Arg232=
XM_024447188.1:c.696G>A	XP_024302956.1:p.Arg232=
XM_024447189.1:c.696G>A	XP_024302957.1:p.Arg232=
NM_001374839.1:c.696G>A	NP_001361768.1:p.Arg232=
NM_017767.3:c.903G>A	NP_060237.3:p.Arg301=
NM_130849.4:c.978G>A MANE Select	NP_570901.3:p.Arg326=