Canonical Allele Identifier: CA349989854

Gene: SLC40A1

Linked Data

• ClinVar Variation Id: 2772557
• ClinVar RCV Id: RCV003505737
• gnomAD v4: 2-189575287-A-G
• MyVariant Identifiers: chr2:g.190440013A>G (hg19) ; chr2:g.189575287A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189575287A>G , CM000664.2:g.189575287A>G	GRCh38
NC_000002.11:g.190440013A>G , CM000664.1:g.190440013A>G	GRCh37
NC_000002.10:g.190148258A>G	NCBI36
NG_009027.1:g.10525T>C , LRG_837:g.10525T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261024.7:c.145T>C MANE Select	ENSP00000261024.3:p.Phe49Leu
ENST00000261024.6:c.145T>C	ENSP00000261024.2:p.Phe49Leu
ENST00000418714.1:n.586T>C
ENST00000427241.5:c.145T>C	ENSP00000390005.1:p.Phe49Leu
ENST00000455320.5:c.145T>C	ENSP00000413549.1:p.Phe49Leu
ENST00000479598.5:n.426T>C
NM_014585.5:c.145T>C , LRG_837t1:c.145T>C	NP_055400.1:p.Phe49Leu
XM_005246505.1:c.25T>C	XP_005246562.1:p.Phe9Leu
XM_005246505.2:c.25T>C	XP_005246562.1:p.Phe9Leu
XM_017003938.2:c.25T>C	XP_016859427.1:p.Phe9Leu
NM_014585.6:c.145T>C MANE Select	NP_055400.1:p.Phe49Leu