Canonical Allele Identifier: CA1040449899
Gene: SLC40A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1035851
ClinVar RCV Id: RCV001338778
dbSNP Id: rs2030824771
gnomAD v3: 2-189563580-T-C
gnomAD v4: 2-189563580-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189563580T>C , CM000664.2:g.189563580T>C GRCh38
NC_000002.11:g.190428306T>C , CM000664.1:g.190428306T>C GRCh37
NC_000002.10:g.190136551T>C NCBI36
NG_009027.1:g.22232A>G , LRG_837:g.22232A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.1402+4A>G MANE Select ENSP00000261024.3:n.1402+4A>G
ENST00000261024.6:c.1402+4A>G ENSP00000261024.2:n.1402+4A>G
NM_014585.5:c.1402+4A>G , LRG_837t1:c.1402+4A>G NP_055400.1:n.1402+4A>G
XM_005246505.1:c.1282+4A>G XP_005246562.1:n.1282+4A>G
XM_005246505.2:c.1282+4A>G XP_005246562.1:n.1282+4A>G
XM_017003938.2:c.1282+4A>G XP_016859427.1:n.1282+4A>G
NM_014585.6:c.1402+4A>G MANE Select NP_055400.1:n.1402+4A>G
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