Canonical Allele Identifier: CA2024182
Gene: SLC40A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 260422
ClinVar RCV Id: RCV000247963 RCV000860061 RCV001640549
dbSNP Id: rs2304704
ExAC: 2:190430177 A / G
gnomAD v2: 2-190430177-A-G
gnomAD v3: 2-189565451-A-G
gnomAD v4: 2-189565451-A-G
MyVariant Identifiers: chr2:g.190430177A>G (hg19) chr2:g.189565451A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189565451A>G , CM000664.2:g.189565451A>G GRCh38
NC_000002.11:g.190430177A>G , CM000664.1:g.190430177A>G GRCh37
NC_000002.10:g.190138422A>G NCBI36
NG_009027.1:g.20361T>C , LRG_837:g.20361T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.663T>C MANE Select ENSP00000261024.3:p.Val221=
ENST00000261024.6:c.663T>C ENSP00000261024.2:p.Val221=
NM_014585.5:c.663T>C , LRG_837t1:c.663T>C NP_055400.1:p.Val221=
XM_005246505.1:c.543T>C XP_005246562.1:p.Val181=
XM_005246505.2:c.543T>C XP_005246562.1:p.Val181=
XM_017003938.2:c.543T>C XP_016859427.1:p.Val181=
NM_014585.6:c.663T>C MANE Select NP_055400.1:p.Val221=
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