Canonical Allele Identifier: CA2024185

Gene: SLC40A1

Linked Data

• ClinVar Variation Id: 2535420
• ClinVar RCV Id: RCV003260985 ; RCV003614214
• dbSNP Id: rs199683014
• ExAC: 2:190430188 C / T
• gnomAD v2: 2-190430188-C-T
• gnomAD v3: 2-189565462-C-T
• gnomAD v4: 2-189565462-C-T
• MyVariant Identifiers: chr2:g.190430188C>T (hg19) ; chr2:g.189565462C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189565462C>T , CM000664.2:g.189565462C>T	GRCh38
NC_000002.11:g.190430188C>T , CM000664.1:g.190430188C>T	GRCh37
NC_000002.10:g.190138433C>T	NCBI36
NG_009027.1:g.20350G>A , LRG_837:g.20350G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261024.7:c.652G>A MANE Select	ENSP00000261024.3:p.Val218Met
ENST00000261024.6:c.652G>A	ENSP00000261024.2:p.Val218Met
NM_014585.5:c.652G>A , LRG_837t1:c.652G>A	NP_055400.1:p.Val218Met
XM_005246505.1:c.532G>A	XP_005246562.1:p.Val178Met
XM_005246505.2:c.532G>A	XP_005246562.1:p.Val178Met
XM_017003938.2:c.532G>A	XP_016859427.1:p.Val178Met
NM_014585.6:c.652G>A MANE Select	NP_055400.1:p.Val218Met