Canonical Allele Identifier: CA2024167
Gene: SLC40A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 333166
ClinVar RCV Id: RCV000335114
dbSNP Id: rs145600408
ExAC: 2:190430066 T / C
gnomAD v2: 2-190430066-T-C
gnomAD v3: 2-189565340-T-C
gnomAD v4: 2-189565340-T-C
MyVariant Identifiers: chr2:g.190430066T>C (hg19) chr2:g.189565340T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189565340T>C , CM000664.2:g.189565340T>C GRCh38
NC_000002.11:g.190430066T>C , CM000664.1:g.190430066T>C GRCh37
NC_000002.10:g.190138311T>C NCBI36
NG_009027.1:g.20472A>G , LRG_837:g.20472A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.760+14A>G MANE Select ENSP00000261024.3:n.760+14A>G
ENST00000261024.6:c.760+14A>G ENSP00000261024.2:n.760+14A>G
NM_014585.5:c.760+14A>G , LRG_837t1:c.760+14A>G NP_055400.1:n.760+14A>G
XM_005246505.1:c.640+14A>G XP_005246562.1:n.640+14A>G
XM_005246505.2:c.640+14A>G XP_005246562.1:n.640+14A>G
XM_017003938.2:c.640+14A>G XP_016859427.1:n.640+14A>G
NM_014585.6:c.760+14A>G MANE Select NP_055400.1:n.760+14A>G
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