Canonical Allele Identifier: CA538917976
Gene: SLC40A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2958686
ClinVar RCV Id: RCV003816909
dbSNP Id: rs1247505541
gnomAD v2: 2-190430069-G-A
gnomAD v3: 2-189565343-G-A
gnomAD v4: 2-189565343-G-A
MyVariant Identifiers: chr2:g.190430069G>A (hg19) chr2:g.189565343G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189565343G>A , CM000664.2:g.189565343G>A GRCh38
NC_000002.11:g.190430069G>A , CM000664.1:g.190430069G>A GRCh37
NC_000002.10:g.190138314G>A NCBI36
NG_009027.1:g.20469C>T , LRG_837:g.20469C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.760+11C>T MANE Select ENSP00000261024.3:n.760+11C>T
ENST00000261024.6:c.760+11C>T ENSP00000261024.2:n.760+11C>T
NM_014585.5:c.760+11C>T , LRG_837t1:c.760+11C>T NP_055400.1:n.760+11C>T
XM_005246505.1:c.640+11C>T XP_005246562.1:n.640+11C>T
XM_005246505.2:c.640+11C>T XP_005246562.1:n.640+11C>T
XM_017003938.2:c.640+11C>T XP_016859427.1:n.640+11C>T
NM_014585.6:c.760+11C>T MANE Select NP_055400.1:n.760+11C>T
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