Canonical Allele Identifier: CA430367286
Gene: SLC40A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1979467
ClinVar RCV Id: RCV002780018
dbSNP Id: rs1473604871
gnomAD v2: 2-190428464-C-T
gnomAD v3: 2-189563738-C-T
gnomAD v4: 2-189563738-C-T
MyVariant Identifiers: chr2:g.190428464C>T (hg19) chr2:g.189563738C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189563738C>T , CM000664.2:g.189563738C>T GRCh38
NC_000002.11:g.190428464C>T , CM000664.1:g.190428464C>T GRCh37
NC_000002.10:g.190136709C>T NCBI36
NG_009027.1:g.22074G>A , LRG_837:g.22074G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.1248G>A MANE Select ENSP00000261024.3:p.Glu416=
ENST00000261024.6:c.1248G>A ENSP00000261024.2:p.Glu416=
NM_014585.5:c.1248G>A , LRG_837t1:c.1248G>A NP_055400.1:p.Glu416=
XM_005246505.1:c.1128G>A XP_005246562.1:p.Glu376=
XM_005246505.2:c.1128G>A XP_005246562.1:p.Glu376=
XM_017003938.2:c.1128G>A XP_016859427.1:p.Glu376=
NM_014585.6:c.1248G>A MANE Select NP_055400.1:p.Glu416=
Search 100 bp 5'
Search 100 bp 3'