Canonical Allele Identifier: CA2024067
Gene: SLC40A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1016173
ClinVar RCV Id: RCV001315138
dbSNP Id: rs770079873
ExAC: 2:190428310 C / T
gnomAD v2: 2-190428310-C-T
gnomAD v4: 2-189563584-C-T
COSMIC: COSM5058517
MyVariant Identifiers: chr2:g.190428310C>T (hg19) chr2:g.189563584C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189563584C>T , CM000664.2:g.189563584C>T GRCh38
NC_000002.11:g.190428310C>T , CM000664.1:g.190428310C>T GRCh37
NC_000002.10:g.190136555C>T NCBI36
NG_009027.1:g.22228G>A , LRG_837:g.22228G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.1402G>A MANE Select ENSP00000261024.3:p.Gly468Ser
ENST00000261024.6:c.1402G>A ENSP00000261024.2:p.Gly468Ser
NM_014585.5:c.1402G>A , LRG_837t1:c.1402G>A NP_055400.1:p.Gly468Ser
XM_005246505.1:c.1282G>A XP_005246562.1:p.Gly428Ser
XM_005246505.2:c.1282G>A XP_005246562.1:p.Gly428Ser
XM_017003938.2:c.1282G>A XP_016859427.1:p.Gly428Ser
NM_014585.6:c.1402G>A MANE Select NP_055400.1:p.Gly468Ser
Search 100 bp 5'
Search 100 bp 3'