Canonical Allele Identifier: CA2024145
Gene: SLC40A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2958080
ClinVar RCV Id: RCV003814328
dbSNP Id: rs371014218
ExAC: 2:190428933 A / G
gnomAD v2: 2-190428933-A-G
gnomAD v3: 2-189564207-A-G
gnomAD v4: 2-189564207-A-G
MyVariant Identifiers: chr2:g.190428933A>G (hg19) chr2:g.189564207A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189564207A>G , CM000664.2:g.189564207A>G GRCh38
NC_000002.11:g.190428933A>G , CM000664.1:g.190428933A>G GRCh37
NC_000002.10:g.190137178A>G NCBI36
NG_009027.1:g.21605T>C , LRG_837:g.21605T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.779T>C MANE Select ENSP00000261024.3:p.Leu260Pro
ENST00000261024.6:c.779T>C ENSP00000261024.2:p.Leu260Pro
NM_014585.5:c.779T>C , LRG_837t1:c.779T>C NP_055400.1:p.Leu260Pro
XM_005246505.1:c.659T>C XP_005246562.1:p.Leu220Pro
XM_005246505.2:c.659T>C XP_005246562.1:p.Leu220Pro
XM_017003938.2:c.659T>C XP_016859427.1:p.Leu220Pro
NM_014585.6:c.779T>C MANE Select NP_055400.1:p.Leu260Pro
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