Canonical Allele Identifier: CA2024082
Gene: SLC40A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 698027
ClinVar RCV Id: RCV000865209 RCV003918370
dbSNP Id: rs45606432
ExAC: 2:190428384 G / A
gnomAD v2: 2-190428384-G-A
gnomAD v3: 2-189563658-G-A
gnomAD v4: 2-189563658-G-A
MyVariant Identifiers: chr2:g.190428384G>A (hg19) chr2:g.189563658G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189563658G>A , CM000664.2:g.189563658G>A GRCh38
NC_000002.11:g.190428384G>A , CM000664.1:g.190428384G>A GRCh37
NC_000002.10:g.190136629G>A NCBI36
NG_009027.1:g.22154C>T , LRG_837:g.22154C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.1328C>T MANE Select ENSP00000261024.3:p.Pro443Leu
ENST00000261024.6:c.1328C>T ENSP00000261024.2:p.Pro443Leu
NM_014585.5:c.1328C>T , LRG_837t1:c.1328C>T NP_055400.1:p.Pro443Leu
XM_005246505.1:c.1208C>T XP_005246562.1:p.Pro403Leu
XM_005246505.2:c.1208C>T XP_005246562.1:p.Pro403Leu
XM_017003938.2:c.1208C>T XP_016859427.1:p.Pro403Leu
NM_014585.6:c.1328C>T MANE Select NP_055400.1:p.Pro443Leu
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