Canonical Allele Identifier: CA3403459
Gene: SLC22A4 HGNC NCBI
MIR3936HG HGNC NCBI

Linked Data

ClinVar Variation Id: 2996879
ClinVar RCV Id: RCV003859014
dbSNP Id: rs148604311
ExAC: 5:131649443 G / A
gnomAD v2: 5-131649443-G-A
gnomAD v3: 5-132313750-G-A
gnomAD v4: 5-132313750-G-A
MyVariant Identifiers: chr5:g.131649443G>A (hg19) chr5:g.132313750G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132313750G>A , CM000667.2:g.132313750G>A GRCh38
NC_000005.9:g.131649443G>A , CM000667.1:g.131649443G>A GRCh37
NC_000005.8:g.131677342G>A NCBI36
NG_012129.1:g.24299G>A
NG_012129.2:g.24299G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000200652.4:c.634G>A (SLC22A4) MANE Select ENSP00000200652.3:p.Val212Met
ENST00000200652.3:c.634G>A (SLC22A4) ENSP00000200652.3:p.Val212Met
ENST00000491257.1:n.438G>A (SLC22A4)
NM_003059.2:c.634G>A (SLC22A4) NP_003050.2:p.Val212Met
NR_110997.1:n.825-1497C>T (MIR3936HG)
XM_006714675.2:c.106G>A (SLC22A4) XP_006714738.1:p.Val36Met
XM_011543589.1:c.530G>A (SLC22A4) XP_011541891.1:p.Cys177Tyr
XM_006714675.4:c.106G>A (SLC22A4) XP_006714738.1:p.Val36Met
XM_011543589.2:c.530G>A (SLC22A4) XP_011541891.1:p.Cys177Tyr
XM_017009776.1:c.106G>A (SLC22A4) XP_016865265.1:p.Val36Met
NM_003059.3:c.634G>A (SLC22A4) MANE Select NP_003050.2:p.Val212Met
Search 100 bp 5'
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