Canonical Allele Identifier: CA349987864
Gene: SLC40A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2046640
ClinVar RCV Id: RCV002926652
dbSNP Id: rs1463049429
gnomAD v2: 2-190428674-C-G
gnomAD v4: 2-189563948-C-G
MyVariant Identifiers: chr2:g.190428674C>G (hg19) chr2:g.189563948C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189563948C>G , CM000664.2:g.189563948C>G GRCh38
NC_000002.11:g.190428674C>G , CM000664.1:g.190428674C>G GRCh37
NC_000002.10:g.190136919C>G NCBI36
NG_009027.1:g.21864G>C , LRG_837:g.21864G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000261024.7:c.1038G>C MANE Select ENSP00000261024.3:p.Met346Ile
ENST00000261024.6:c.1038G>C ENSP00000261024.2:p.Met346Ile
NM_014585.5:c.1038G>C , LRG_837t1:c.1038G>C NP_055400.1:p.Met346Ile
XM_005246505.1:c.918G>C XP_005246562.1:p.Met306Ile
XM_005246505.2:c.918G>C XP_005246562.1:p.Met306Ile
XM_017003938.2:c.918G>C XP_016859427.1:p.Met306Ile
NM_014585.6:c.1038G>C MANE Select NP_055400.1:p.Met346Ile
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