Canonical Allele Identifier: CA2024183

Gene: SLC40A1

Linked Data

• dbSNP Id: rs752593581
• ExAC: 2:190430179 C / T
• gnomAD v2: 2-190430179-C-T
• gnomAD v3: 2-189565453-C-T
• gnomAD v4: 2-189565453-C-T
• COSMIC: COSM4634696
• MyVariant Identifiers: chr2:g.190430179C>T (hg19) ; chr2:g.189565453C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189565453C>T , CM000664.2:g.189565453C>T	GRCh38
NC_000002.11:g.190430179C>T , CM000664.1:g.190430179C>T	GRCh37
NC_000002.10:g.190138424C>T	NCBI36
NG_009027.1:g.20359G>A , LRG_837:g.20359G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261024.7:c.661G>A MANE Select	ENSP00000261024.3:p.Val221Ile
ENST00000261024.6:c.661G>A	ENSP00000261024.2:p.Val221Ile
NM_014585.5:c.661G>A , LRG_837t1:c.661G>A	NP_055400.1:p.Val221Ile
XM_005246505.1:c.541G>A	XP_005246562.1:p.Val181Ile
XM_005246505.2:c.541G>A	XP_005246562.1:p.Val181Ile
XM_017003938.2:c.541G>A	XP_016859427.1:p.Val181Ile
NM_014585.6:c.661G>A MANE Select	NP_055400.1:p.Val221Ile