Canonical Allele Identifier: CA349988298

Gene: SLC40A1

Linked Data

• COSMIC: COSM6156248
• MyVariant Identifiers: chr2:g.190428871C>G (hg19) ; chr2:g.189564145C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189564145C>G , CM000664.2:g.189564145C>G	GRCh38
NC_000002.11:g.190428871C>G , CM000664.1:g.190428871C>G	GRCh37
NC_000002.10:g.190137116C>G	NCBI36
NG_009027.1:g.21667G>C , LRG_837:g.21667G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261024.7:c.841G>C MANE Select	ENSP00000261024.3:p.Glu281Gln
ENST00000261024.6:c.841G>C	ENSP00000261024.2:p.Glu281Gln
NM_014585.5:c.841G>C , LRG_837t1:c.841G>C	NP_055400.1:p.Glu281Gln
XM_005246505.1:c.721G>C	XP_005246562.1:p.Glu241Gln
XM_005246505.2:c.721G>C	XP_005246562.1:p.Glu241Gln
XM_017003938.2:c.721G>C	XP_016859427.1:p.Glu241Gln
NM_014585.6:c.841G>C MANE Select	NP_055400.1:p.Glu281Gln