Canonical Allele Identifier: CA430502844
Gene: SLC40A1 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.189565568C>T
GRCh37 chr2:g.190430294C>T
gnomAD v2:
2:190430294 C / T
gnomAD v3:
2:189565568 C / T
gnomAD v4:
chr2-189565568-C-T
Joint Max Group AF 0.00001724 (NFE)
Exomes Max Group AF 0.00001746 (NFE)
ClinVar RCV:
RCV001137401
ClinVar Variation:
895347
dbSNP:
104893670
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189565568C>T , CM000664.2:g.189565568C>T GRCh38
NC_000002.11:g.190430294C>T , CM000664.1:g.190430294C>T GRCh37
NC_000002.10:g.190138539C>T NCBI36
NG_009027.1:g.20244G>A , LRG_837:g.20244G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.546G>A MANE Select ENSP00000261024.3:p.Gln182=
ENST00000261024.6:c.546G>A ENSP00000261024.2:p.Gln182=
ENST00000427241.5:c.546G>A ENSP00000390005.1:p.Gln182=
NM_014585.5:c.546G>A , LRG_837t1:c.546G>A NP_055400.1:p.Gln182=
XM_005246505.1:c.426G>A XP_005246562.1:p.Gln142=
XM_005246505.2:c.426G>A XP_005246562.1:p.Gln142=
XM_017003938.2:c.426G>A XP_016859427.1:p.Gln142=
NM_014585.6:c.546G>A MANE Select NP_055400.1:p.Gln182=
Search 100 bp 5'
Search 100 bp 3'