Canonical Allele Identifier: CA349988852
Gene: SLC40A1 HGNC NCBI

Linked Data

COSMIC: COSM1404039
MyVariant Identifiers: chr2:g.190430247A>C (hg19) chr2:g.189565521A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189565521A>C , CM000664.2:g.189565521A>C GRCh38
NC_000002.11:g.190430247A>C , CM000664.1:g.190430247A>C GRCh37
NC_000002.10:g.190138492A>C NCBI36
NG_009027.1:g.20291T>G , LRG_837:g.20291T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.593T>G MANE Select ENSP00000261024.3:p.Phe198Cys
ENST00000261024.6:c.593T>G ENSP00000261024.2:p.Phe198Cys
ENST00000427241.5:c.593T>G ENSP00000390005.1:p.Phe198Cys
NM_014585.5:c.593T>G , LRG_837t1:c.593T>G NP_055400.1:p.Phe198Cys
XM_005246505.1:c.473T>G XP_005246562.1:p.Phe158Cys
XM_005246505.2:c.473T>G XP_005246562.1:p.Phe158Cys
XM_017003938.2:c.473T>G XP_016859427.1:p.Phe158Cys
NM_014585.6:c.593T>G MANE Select NP_055400.1:p.Phe198Cys
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