Canonical Allele Identifier: CA349988346
Gene: SLC40A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2606312
ClinVar RCV Id: RCV003369153
dbSNP Id: rs1334849525
gnomAD v2: 2-190428891-T-C
gnomAD v3: 2-189564165-T-C
gnomAD v4: 2-189564165-T-C
MyVariant Identifiers: chr2:g.190428891T>C (hg19) chr2:g.189564165T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189564165T>C , CM000664.2:g.189564165T>C GRCh38
NC_000002.11:g.190428891T>C , CM000664.1:g.190428891T>C GRCh37
NC_000002.10:g.190137136T>C NCBI36
NG_009027.1:g.21647A>G , LRG_837:g.21647A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.821A>G MANE Select ENSP00000261024.3:p.His274Arg
ENST00000261024.6:c.821A>G ENSP00000261024.2:p.His274Arg
NM_014585.5:c.821A>G , LRG_837t1:c.821A>G NP_055400.1:p.His274Arg
XM_005246505.1:c.701A>G XP_005246562.1:p.His234Arg
XM_005246505.2:c.701A>G XP_005246562.1:p.His234Arg
XM_017003938.2:c.701A>G XP_016859427.1:p.His234Arg
NM_014585.6:c.821A>G MANE Select NP_055400.1:p.His274Arg
Search 100 bp 5'
Search 100 bp 3'