Canonical Allele Identifier: CA62902879
Gene: SLC40A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1568797
ClinVar RCV Id: RCV002218615
dbSNP Id: rs1038983318
gnomAD v2: 2-190428332-T-C
gnomAD v3: 2-189563606-T-C
gnomAD v4: 2-189563606-T-C
MyVariant Identifiers: chr2:g.190428332T>C (hg19) chr2:g.189563606T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189563606T>C , CM000664.2:g.189563606T>C GRCh38
NC_000002.11:g.190428332T>C , CM000664.1:g.190428332T>C GRCh37
NC_000002.10:g.190136577T>C NCBI36
NG_009027.1:g.22206A>G , LRG_837:g.22206A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.1380A>G MANE Select ENSP00000261024.3:p.Ala460=
ENST00000261024.6:c.1380A>G ENSP00000261024.2:p.Ala460=
NM_014585.5:c.1380A>G , LRG_837t1:c.1380A>G NP_055400.1:p.Ala460=
XM_005246505.1:c.1260A>G XP_005246562.1:p.Ala420=
XM_005246505.2:c.1260A>G XP_005246562.1:p.Ala420=
XM_017003938.2:c.1260A>G XP_016859427.1:p.Ala420=
NM_014585.6:c.1380A>G MANE Select NP_055400.1:p.Ala460=
Search 100 bp 5'
Search 100 bp 3'