Canonical Allele Identifier: CA2024066
Gene: SLC40A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 534235
ClinVar RCV Id: RCV000641709
dbSNP Id: rs748632086
ExAC: 2:190428300 G / T
gnomAD v2: 2-190428300-G-T
gnomAD v3: 2-189563574-G-T
gnomAD v4: 2-189563574-G-T
MyVariant Identifiers: chr2:g.190428300G>T (hg19) chr2:g.189563574G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189563574G>T , CM000664.2:g.189563574G>T GRCh38
NC_000002.11:g.190428300G>T , CM000664.1:g.190428300G>T GRCh37
NC_000002.10:g.190136545G>T NCBI36
NG_009027.1:g.22238C>A , LRG_837:g.22238C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.1402+10C>A MANE Select ENSP00000261024.3:n.1402+10C>A
ENST00000261024.6:c.1402+10C>A ENSP00000261024.2:n.1402+10C>A
NM_014585.5:c.1402+10C>A , LRG_837t1:c.1402+10C>A NP_055400.1:n.1402+10C>A
XM_005246505.1:c.1282+10C>A XP_005246562.1:n.1282+10C>A
XM_005246505.2:c.1282+10C>A XP_005246562.1:n.1282+10C>A
XM_017003938.2:c.1282+10C>A XP_016859427.1:n.1282+10C>A
NM_014585.6:c.1402+10C>A MANE Select NP_055400.1:n.1402+10C>A
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