Canonical Allele Identifier: CA2024293
Gene: SLC40A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1422731
ClinVar RCV Id: RCV001919692
dbSNP Id: rs746832217
ExAC: 2:190440039 C / T
gnomAD v2: 2-190440039-C-T
gnomAD v4: 2-189575313-C-T
COSMIC: COSM3575507
MyVariant Identifiers: chr2:g.190440039C>T (hg19) chr2:g.189575313C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189575313C>T , CM000664.2:g.189575313C>T GRCh38
NC_000002.11:g.190440039C>T , CM000664.1:g.190440039C>T GRCh37
NC_000002.10:g.190148284C>T NCBI36
NG_009027.1:g.10499G>A , LRG_837:g.10499G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.119G>A MANE Select ENSP00000261024.3:p.Arg40Gln
ENST00000261024.6:c.119G>A ENSP00000261024.2:p.Arg40Gln
ENST00000418714.1:n.560G>A
ENST00000427241.5:c.119G>A ENSP00000390005.1:p.Arg40Gln
ENST00000455320.5:c.119G>A ENSP00000413549.1:p.Arg40Gln
ENST00000479598.5:n.400G>A
NM_014585.5:c.119G>A , LRG_837t1:c.119G>A NP_055400.1:p.Arg40Gln
XM_005246505.1:c.-2G>A XP_005246562.1:n.-2G>A
XM_005246505.2:c.-2G>A XP_005246562.1:n.-2G>A
XM_017003938.2:c.-2G>A XP_016859427.1:n.-2G>A
NM_014585.6:c.119G>A MANE Select NP_055400.1:p.Arg40Gln
Search 100 bp 5'
Search 100 bp 3'