Canonical Allele Identifier: CA15157747
Gene: SLC11A1 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.218381984C>T
GRCh37 chr2:g.219246707C>T
gnomAD v2:
2:219246707 C / T
gnomAD v3:
2:218381984 C / T
gnomAD v4:
chr2-218381984-C-T
Joint Max Group AF 0.07670019 (AFR)
Genomes Max Group AF 0.07769702 (AFR)
Exomes Max Group AF 0.06015548 (AFR)
dbSNP:
7573065
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218381984C>T , CM000664.2:g.218381984C>T GRCh38
NC_000002.11:g.219246707C>T , CM000664.1:g.219246707C>T GRCh37
NC_000002.10:g.218954951C>T NCBI36
NG_012128.1:g.4956C>T

Transcript Alleles

HGVS Amino-acid Change
XM_005246793.2:c.-443C>T XP_005246850.1:n.-443C>T
XM_005246794.2:c.-813C>T XP_005246851.1:n.-813C>T
XM_006712709.2:c.-670C>T XP_006712772.1:n.-670C>T
XM_006712710.2:c.-547C>T XP_006712773.1:n.-547C>T
XM_006712711.2:c.-566C>T XP_006712774.1:n.-566C>T
XM_011511684.1:c.-821C>T XP_011509986.1:n.-821C>T
XM_011511685.1:c.-678C>T XP_011509987.1:n.-678C>T
XR_427108.2:n.219C>T
XM_005246793.4:c.-443C>T XP_005246850.1:n.-443C>T
XM_005246794.4:c.-813C>T XP_005246851.1:n.-813C>T
XM_006712709.4:c.-670C>T XP_006712772.1:n.-670C>T
XM_006712710.4:c.-547C>T XP_006712773.1:n.-547C>T
XM_006712711.4:c.-566C>T XP_006712774.1:n.-566C>T
XM_011511684.3:c.-821C>T XP_011509986.1:n.-821C>T
XM_011511685.3:c.-678C>T XP_011509987.1:n.-678C>T
XM_017004765.2:c.-385C>T XP_016860254.1:n.-385C>T
XM_017004766.2:c.-554C>T XP_016860255.1:n.-554C>T
XR_427108.4:n.219C>T
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