Canonical Allele Identifier: CA62904039
Gene: SLC40A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2200458
ClinVar RCV Id: RCV002638225
dbSNP Id: rs1040988213
gnomAD v2: 2-190439946-G-C
gnomAD v3: 2-189575220-G-C
gnomAD v4: 2-189575220-G-C
MyVariant Identifiers: chr2:g.190439946G>C (hg19) chr2:g.189575220G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189575220G>C , CM000664.2:g.189575220G>C GRCh38
NC_000002.11:g.190439946G>C , CM000664.1:g.190439946G>C GRCh37
NC_000002.10:g.190148191G>C NCBI36
NG_009027.1:g.10592C>G , LRG_837:g.10592C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.212C>G MANE Select ENSP00000261024.3:p.Ser71Cys
ENST00000261024.6:c.212C>G ENSP00000261024.2:p.Ser71Cys
ENST00000418714.1:n.653C>G
ENST00000427241.5:c.212C>G ENSP00000390005.1:p.Ser71Cys
ENST00000479598.5:n.493C>G
NM_014585.5:c.212C>G , LRG_837t1:c.212C>G NP_055400.1:p.Ser71Cys
XM_005246505.1:c.92C>G XP_005246562.1:p.Ser31Cys
XM_005246505.2:c.92C>G XP_005246562.1:p.Ser31Cys
XM_017003938.2:c.92C>G XP_016859427.1:p.Ser31Cys
NM_014585.6:c.212C>G MANE Select NP_055400.1:p.Ser71Cys
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