Canonical Allele Identifier: CA2024097
Gene: SLC40A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 534234
ClinVar RCV Id: RCV000641708 RCV003162890
dbSNP Id: rs199629095
ExAC: 2:190428460 T / C
gnomAD v2: 2-190428460-T-C
gnomAD v3: 2-189563734-T-C
gnomAD v4: 2-189563734-T-C
MyVariant Identifiers: chr2:g.190428460T>C (hg19) chr2:g.189563734T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189563734T>C , CM000664.2:g.189563734T>C GRCh38
NC_000002.11:g.190428460T>C , CM000664.1:g.190428460T>C GRCh37
NC_000002.10:g.190136705T>C NCBI36
NG_009027.1:g.22078A>G , LRG_837:g.22078A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.1252A>G MANE Select ENSP00000261024.3:p.Ile418Val
ENST00000261024.6:c.1252A>G ENSP00000261024.2:p.Ile418Val
NM_014585.5:c.1252A>G , LRG_837t1:c.1252A>G NP_055400.1:p.Ile418Val
XM_005246505.1:c.1132A>G XP_005246562.1:p.Ile378Val
XM_005246505.2:c.1132A>G XP_005246562.1:p.Ile378Val
XM_017003938.2:c.1132A>G XP_016859427.1:p.Ile378Val
NM_014585.6:c.1252A>G MANE Select NP_055400.1:p.Ile418Val
Search 100 bp 5'
Search 100 bp 3'