Canonical Allele Identifier: CA215954
Gene: SLC40A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 56154
ClinVar RCV Id: RCV000049564 RCV003105787
dbSNP Id: rs387907378
ExAC: 2:190428600 C / T
gnomAD v2: 2-190428600-C-T
gnomAD v3: 2-189563874-C-T
gnomAD v4: 2-189563874-C-T
MyVariant Identifiers: chr2:g.190428600C>T (hg19) chr2:g.189563874C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189563874C>T , CM000664.2:g.189563874C>T GRCh38
NC_000002.11:g.190428600C>T , CM000664.1:g.190428600C>T GRCh37
NC_000002.10:g.190136845C>T NCBI36
NG_009027.1:g.21938G>A , LRG_837:g.21938G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.1112G>A MANE Select ENSP00000261024.3:p.Arg371Gln
ENST00000261024.6:c.1112G>A ENSP00000261024.2:p.Arg371Gln
NM_014585.5:c.1112G>A , LRG_837t1:c.1112G>A NP_055400.1:p.Arg371Gln
XM_005246505.1:c.992G>A XP_005246562.1:p.Arg331Gln
XM_005246505.2:c.992G>A XP_005246562.1:p.Arg331Gln
XM_017003938.2:c.992G>A XP_016859427.1:p.Arg331Gln
NM_014585.6:c.1112G>A MANE Select NP_055400.1:p.Arg371Gln
Search 100 bp 5'
Search 100 bp 3'