Canonical Allele Identifier: CA349988343

Gene: SLC40A1

Linked Data

• dbSNP Id: rs2030852012
• gnomAD v3: 2-189564164-A-C
• gnomAD v4: 2-189564164-A-C
• MyVariant Identifiers: chr2:g.190428890A>C (hg19) ; chr2:g.189564164A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189564164A>C , CM000664.2:g.189564164A>C	GRCh38
NC_000002.11:g.190428890A>C , CM000664.1:g.190428890A>C	GRCh37
NC_000002.10:g.190137135A>C	NCBI36
NG_009027.1:g.21648T>G , LRG_837:g.21648T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261024.7:c.822T>G MANE Select	ENSP00000261024.3:p.His274Gln
ENST00000261024.6:c.822T>G	ENSP00000261024.2:p.His274Gln
NM_014585.5:c.822T>G , LRG_837t1:c.822T>G	NP_055400.1:p.His274Gln
XM_005246505.1:c.702T>G	XP_005246562.1:p.His234Gln
XM_005246505.2:c.702T>G	XP_005246562.1:p.His234Gln
XM_017003938.2:c.702T>G	XP_016859427.1:p.His234Gln
NM_014585.6:c.822T>G MANE Select	NP_055400.1:p.His274Gln