Canonical Allele Identifier: CA372621237

Gene: SLC39A4

Linked Data

• ClinVar Variation Id: 990601
• ClinVar RCV Id: RCV001278659
• dbSNP Id: rs782320992
• gnomAD v4: 8-144414345-C-A
• MyVariant Identifiers: chr8:g.145639729C>A (hg19) ; chr8:g.144414345C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144414345C>A , CM000670.2:g.144414345C>A	GRCh38
NC_000008.10:g.145639729C>A , CM000670.1:g.145639729C>A	GRCh37
NC_000008.9:g.145610537C>A	NCBI36
NG_012234.2:g.7546G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301305.8:c.1066G>T MANE Select	ENSP00000301305.4:p.Val356Phe
ENST00000276833.9:c.991G>T	ENSP00000276833.5:p.Val331Phe
ENST00000301305.7:c.1066G>T	ENSP00000301305.3:p.Val356Phe
NM_017767.2:c.991G>T	NP_060237.2:p.Val331Phe
NM_130849.3:c.1066G>T	NP_570901.2:p.Val356Phe
XM_006716599.1:c.1066G>T	XP_006716662.1:p.Val356Phe
XM_011517153.1:c.784G>T	XP_011515455.1:p.Val262Phe
XM_024447188.1:c.784G>T	XP_024302956.1:p.Val262Phe
XM_024447189.1:c.784G>T	XP_024302957.1:p.Val262Phe
NM_001374839.1:c.784G>T	NP_001361768.1:p.Val262Phe
NM_017767.3:c.991G>T	NP_060237.3:p.Val331Phe
NM_130849.4:c.1066G>T MANE Select	NP_570901.3:p.Val356Phe