Canonical Allele Identifier: CA2607006871
Gene: SLC40A1 HGNC NCBI

Linked Data

gnomAD v3: 2-189563744-T-TTGAATGAACCTTGATCGGATATCTTCAAAAGGAGAAACGGACAAGTCCAGGGGGCTTCCAGGCA
gnomAD v4: 2-189563744-T-TTGAATGAACCTTGATCGGATATCTTCAAAAGGAGAAACGGACAAGTCCAGGGGGCTTCCAGGCA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189563750_189563813dup , CM000664.2:g.189563750_189563813dup GRCh38
NC_000002.11:g.190428476_190428539dup , CM000664.1:g.190428476_190428539dup GRCh37
NC_000002.10:g.190136721_190136784dup NCBI36
NG_009027.1:g.22004_22067dup , LRG_837:g.22004_22067dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.1178_1241dup MANE Select ENSP00000261024.3:p.Gln414HisfsTer14
ENST00000261024.6:c.1178_1241dup ENSP00000261024.2:p.Gln414HisfsTer14
NM_014585.5:c.1178_1241dup , LRG_837t1:c.1178_1241dup NP_055400.1:p.Gln414HisfsTer14
XM_005246505.1:c.1058_1121dup XP_005246562.1:p.Gln374HisfsTer14
XM_005246505.2:c.1058_1121dup XP_005246562.1:p.Gln374HisfsTer14
XM_017003938.2:c.1058_1121dup XP_016859427.1:p.Gln374HisfsTer14
NM_014585.6:c.1178_1241dup MANE Select NP_055400.1:p.Gln414HisfsTer14
Search 100 bp 5'
Search 100 bp 3'