Canonical Allele Identifier: CA2024136

Gene: SLC40A1

Linked Data

• ClinVar Variation Id: 1110450
• ClinVar RCV Id: RCV001436654 ; RCV003160747
• dbSNP Id: rs149517113
• ExAC: 2:190428835 G / A
• gnomAD v2: 2-190428835-G-A
• gnomAD v3: 2-189564109-G-A
• gnomAD v4: 2-189564109-G-A
• MyVariant Identifiers: chr2:g.190428835G>A (hg19) ; chr2:g.189564109G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189564109G>A , CM000664.2:g.189564109G>A	GRCh38
NC_000002.11:g.190428835G>A , CM000664.1:g.190428835G>A	GRCh37
NC_000002.10:g.190137080G>A	NCBI36
NG_009027.1:g.21703C>T , LRG_837:g.21703C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261024.7:c.877C>T MANE Select	ENSP00000261024.3:p.Arg293Cys
ENST00000261024.6:c.877C>T	ENSP00000261024.2:p.Arg293Cys
NM_014585.5:c.877C>T , LRG_837t1:c.877C>T	NP_055400.1:p.Arg293Cys
XM_005246505.1:c.757C>T	XP_005246562.1:p.Arg253Cys
XM_005246505.2:c.757C>T	XP_005246562.1:p.Arg253Cys
XM_017003938.2:c.757C>T	XP_016859427.1:p.Arg253Cys
NM_014585.6:c.877C>T MANE Select	NP_055400.1:p.Arg293Cys