Canonical Allele Identifier: CA2024145

Gene: SLC40A1

Linked Data

• ClinVar Variation Id: 2958080
• ClinVar RCV Id: RCV003814328
• dbSNP Id: rs371014218
• ExAC: 2:190428933 A / G
• gnomAD v2: 2-190428933-A-G
• gnomAD v3: 2-189564207-A-G
• gnomAD v4: 2-189564207-A-G
• MyVariant Identifiers: chr2:g.190428933A>G (hg19) ; chr2:g.189564207A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189564207A>G , CM000664.2:g.189564207A>G	GRCh38
NC_000002.11:g.190428933A>G , CM000664.1:g.190428933A>G	GRCh37
NC_000002.10:g.190137178A>G	NCBI36
NG_009027.1:g.21605T>C , LRG_837:g.21605T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261024.7:c.779T>C MANE Select	ENSP00000261024.3:p.Leu260Pro
ENST00000261024.6:c.779T>C	ENSP00000261024.2:p.Leu260Pro
NM_014585.5:c.779T>C , LRG_837t1:c.779T>C	NP_055400.1:p.Leu260Pro
XM_005246505.1:c.659T>C	XP_005246562.1:p.Leu220Pro
XM_005246505.2:c.659T>C	XP_005246562.1:p.Leu220Pro
XM_017003938.2:c.659T>C	XP_016859427.1:p.Leu220Pro
NM_014585.6:c.779T>C MANE Select	NP_055400.1:p.Leu260Pro