Canonical Allele Identifier: CA346931
Gene: SLC40A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 208987
ClinVar RCV Id: RCV000190909
dbSNP Id: rs368420430
ExAC: 2:190428903 T / A
gnomAD v2: 2-190428903-T-A
gnomAD v3: 2-189564177-T-A
gnomAD v4: 2-189564177-T-A
MyVariant Identifiers: chr2:g.190428903T>A (hg19) chr2:g.189564177T>A (hg38)
PubMed: PMID:20301613 PMID:22584997
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189564177T>A , CM000664.2:g.189564177T>A GRCh38
NC_000002.11:g.190428903T>A , CM000664.1:g.190428903T>A GRCh37
NC_000002.10:g.190137148T>A NCBI36
NG_009027.1:g.21635A>T , LRG_837:g.21635A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.809A>T MANE Select ENSP00000261024.3:p.Asp270Val
ENST00000261024.6:c.809A>T ENSP00000261024.2:p.Asp270Val
NM_014585.5:c.809A>T , LRG_837t1:c.809A>T NP_055400.1:p.Asp270Val
XM_005246505.1:c.689A>T XP_005246562.1:p.Asp230Val
XM_005246505.2:c.689A>T XP_005246562.1:p.Asp230Val
XM_017003938.2:c.689A>T XP_016859427.1:p.Asp230Val
NM_014585.6:c.809A>T MANE Select NP_055400.1:p.Asp270Val
Search 100 bp 5'
Search 100 bp 3'