Canonical Allele Identifier: CA2024184

Gene: SLC40A1

Linked Data

• ClinVar Variation Id: 1565723
• ClinVar RCV Id: RCV002205461
• dbSNP Id: rs368843037
• ExAC: 2:190430180 G / A
• gnomAD v2: 2-190430180-G-A
• gnomAD v3: 2-189565454-G-A
• gnomAD v4: 2-189565454-G-A
• COSMIC: COSM2712169
• MyVariant Identifiers: chr2:g.190430180G>A (hg19) ; chr2:g.189565454G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189565454G>A , CM000664.2:g.189565454G>A	GRCh38
NC_000002.11:g.190430180G>A , CM000664.1:g.190430180G>A	GRCh37
NC_000002.10:g.190138425G>A	NCBI36
NG_009027.1:g.20358C>T , LRG_837:g.20358C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261024.7:c.660C>T MANE Select	ENSP00000261024.3:p.Tyr220=
ENST00000261024.6:c.660C>T	ENSP00000261024.2:p.Tyr220=
NM_014585.5:c.660C>T , LRG_837t1:c.660C>T	NP_055400.1:p.Tyr220=
XM_005246505.1:c.540C>T	XP_005246562.1:p.Tyr180=
XM_005246505.2:c.540C>T	XP_005246562.1:p.Tyr180=
XM_017003938.2:c.540C>T	XP_016859427.1:p.Tyr180=
NM_014585.6:c.660C>T MANE Select	NP_055400.1:p.Tyr220=