Canonical Allele Identifier: CA430502978
Gene: SLC40A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3015363
ClinVar RCV Id: RCV003870970
dbSNP Id: rs2030843365
gnomAD v3: 2-189563939-T-C
gnomAD v4: 2-189563939-T-C
MyVariant Identifiers: chr2:g.190428665T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189563939T>C , CM000664.2:g.189563939T>C GRCh38
NC_000002.11:g.190428665T>C , CM000664.1:g.190428665T>C GRCh37
NC_000002.10:g.190136910T>C NCBI36
NG_009027.1:g.21873A>G , LRG_837:g.21873A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000261024.7:c.1047A>G MANE Select ENSP00000261024.3:p.Ser349=
ENST00000261024.6:c.1047A>G ENSP00000261024.2:p.Ser349=
NM_014585.5:c.1047A>G , LRG_837t1:c.1047A>G NP_055400.1:p.Ser349=
XM_005246505.1:c.927A>G XP_005246562.1:p.Ser309=
XM_005246505.2:c.927A>G XP_005246562.1:p.Ser309=
XM_017003938.2:c.927A>G XP_016859427.1:p.Ser309=
NM_014585.6:c.1047A>G MANE Select NP_055400.1:p.Ser349=
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