Canonical Allele Identifier: CA349989861

Gene: SLC40A1

Linked Data

• ClinVar Variation Id: 986314
• ClinVar RCV Id: RCV001420116
• dbSNP Id: rs2105631748
• MyVariant Identifiers: chr2:g.190440018G>A (hg19) ; chr2:g.189575292G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189575292G>A , CM000664.2:g.189575292G>A	GRCh38
NC_000002.11:g.190440018G>A , CM000664.1:g.190440018G>A	GRCh37
NC_000002.10:g.190148263G>A	NCBI36
NG_009027.1:g.10520C>T , LRG_837:g.10520C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261024.7:c.140C>T MANE Select	ENSP00000261024.3:p.Ser47Phe
ENST00000261024.6:c.140C>T	ENSP00000261024.2:p.Ser47Phe
ENST00000418714.1:n.581C>T
ENST00000427241.5:c.140C>T	ENSP00000390005.1:p.Ser47Phe
ENST00000455320.5:c.140C>T	ENSP00000413549.1:p.Ser47Phe
ENST00000479598.5:n.421C>T
NM_014585.5:c.140C>T , LRG_837t1:c.140C>T	NP_055400.1:p.Ser47Phe
XM_005246505.1:c.20C>T	XP_005246562.1:p.Ser7Phe
XM_005246505.2:c.20C>T	XP_005246562.1:p.Ser7Phe
XM_017003938.2:c.20C>T	XP_016859427.1:p.Ser7Phe
NM_014585.6:c.140C>T MANE Select	NP_055400.1:p.Ser47Phe