Canonical Allele Identifier: CA3403713

Gene: SLC22A4 MIR3936HG

Linked Data

• dbSNP Id: rs72552721
• ExAC: 5:131676326 C / CT
• gnomAD v2: 5-131676326-C-CT
• gnomAD v4: 5-132340633-C-CT
• COSMIC: COSM253156
• MyVariant Identifiers: chr5:g.131676328_131676329insT (hg19) ; chr5:g.131676327_131676328insT (hg19) ; chr5:g.131676326_131676327insT (hg19) ; chr5:g.132340634_132340635insT (hg38) ; chr5:g.132340633_132340634insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132340640dup , CM000667.2:g.132340640dup	GRCh38
NC_000005.9:g.131676333dup , CM000667.1:g.131676333dup	GRCh37
NC_000005.8:g.131704232dup	NCBI36
NG_012129.1:g.51189dup
NG_012129.2:g.51189dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000200652.4:c.1520dup (SLC22A4) MANE Select	ENSP00000200652.3:p.Glu509Ter
ENST00000200652.3:c.1520dup (SLC22A4)	ENSP00000200652.3:p.Glu509Ter
NM_003059.2:c.1520dup (SLC22A4)	NP_003050.2:p.Glu509Ter
NR_110997.1:n.561-5708dup (MIR3936HG)
XM_006714675.2:c.992dup (SLC22A4)	XP_006714738.1:p.Glu333Ter
XM_011543589.1:c.1244dup (SLC22A4)	XP_011541891.1:p.Glu417Ter
XM_006714675.4:c.992dup (SLC22A4)	XP_006714738.1:p.Glu333Ter
XM_011543589.2:c.1244dup (SLC22A4)	XP_011541891.1:p.Glu417Ter
XM_017009776.1:c.992dup (SLC22A4)	XP_016865265.1:p.Glu333Ter
NM_003059.3:c.1520dup (SLC22A4) MANE Select	NP_003050.2:p.Glu509Ter