Canonical Allele Identifier: CA4941427

Gene: SLC39A4

Linked Data

• ClinVar Variation Id: 1150814
• ClinVar RCV Id: RCV001491559
• dbSNP Id: rs138045308
• ExAC: 8:145639787 G / A
• gnomAD v2: 8-145639787-G-A
• gnomAD v3: 8-144414403-G-A
• gnomAD v4: 8-144414403-G-A
• MyVariant Identifiers: chr8:g.145639787G>A (hg19) ; chr8:g.144414403G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144414403G>A , CM000670.2:g.144414403G>A	GRCh38
NC_000008.10:g.145639787G>A , CM000670.1:g.145639787G>A	GRCh37
NC_000008.9:g.145610595G>A	NCBI36
NG_012234.2:g.7488C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301305.8:c.1008C>T MANE Select	ENSP00000301305.4:p.Leu336=
ENST00000276833.9:c.933C>T	ENSP00000276833.5:p.Leu311=
ENST00000301305.7:c.1008C>T	ENSP00000301305.3:p.Leu336=
NM_017767.2:c.933C>T	NP_060237.2:p.Leu311=
NM_130849.3:c.1008C>T	NP_570901.2:p.Leu336=
XM_006716599.1:c.1008C>T	XP_006716662.1:p.Leu336=
XM_011517153.1:c.726C>T	XP_011515455.1:p.Leu242=
XM_024447188.1:c.726C>T	XP_024302956.1:p.Leu242=
XM_024447189.1:c.726C>T	XP_024302957.1:p.Leu242=
NM_001374839.1:c.726C>T	NP_001361768.1:p.Leu242=
NM_017767.3:c.933C>T	NP_060237.3:p.Leu311=
NM_130849.4:c.1008C>T MANE Select	NP_570901.3:p.Leu336=