Canonical Allele Identifier: CA2024226
Gene: SLC40A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2969972
ClinVar RCV Id: RCV003822106
dbSNP Id: rs755396870
ExAC: 2:190436484 A / G
gnomAD v2: 2-190436484-A-G
gnomAD v4: 2-189571758-A-G
MyVariant Identifiers: chr2:g.190436484A>G (hg19) chr2:g.189571758A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189571758A>G , CM000664.2:g.189571758A>G GRCh38
NC_000002.11:g.190436484A>G , CM000664.1:g.190436484A>G GRCh37
NC_000002.10:g.190144729A>G NCBI36
NG_009027.1:g.14054T>C , LRG_837:g.14054T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.471T>C MANE Select ENSP00000261024.3:p.Asp157=
ENST00000261024.6:c.471T>C ENSP00000261024.2:p.Asp157=
ENST00000427241.5:c.471T>C ENSP00000390005.1:p.Asp157=
NM_014585.5:c.471T>C , LRG_837t1:c.471T>C NP_055400.1:p.Asp157=
XM_005246505.1:c.351T>C XP_005246562.1:p.Asp117=
XM_005246505.2:c.351T>C XP_005246562.1:p.Asp117=
XM_017003938.2:c.351T>C XP_016859427.1:p.Asp117=
NM_014585.6:c.471T>C MANE Select NP_055400.1:p.Asp157=
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Search 100 bp 3'