Canonical Allele Identifier: CA15366373
Gene: SLC22A4 HGNC NCBI
MIR3936HG HGNC NCBI
COSMIC:
COSN15305074 (not active)
MyVariant.info:
GRCh38 chr5:g.132313529G>A
GRCh37 chr5:g.131649222G>A
gnomAD v2:
5:131649222 G / A
gnomAD v3:
5:132313529 G / A
gnomAD v4:
chr5-132313529-G-A
Joint Max Group AF 0.28582676 (EAS)
Genomes Max Group AF 0.25662994 (EAS)
Exomes Max Group AF 0.28848159 (EAS)
ClinVar RCV:
RCV001695508
ClinVar Variation:
1280356
dbSNP:
2073838
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132313529G>A , CM000667.2:g.132313529G>A GRCh38
NC_000005.9:g.131649222G>A , CM000667.1:g.131649222G>A GRCh37
NC_000005.8:g.131677121G>A NCBI36
NG_012129.1:g.24078G>A
NG_012129.2:g.24078G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000200652.4:c.498-85G>A (SLC22A4) MANE Select ENSP00000200652.3:n.498-85G>A
ENST00000200652.3:c.498-85G>A (SLC22A4) ENSP00000200652.3:n.498-85G>A
ENST00000491257.1:n.302-85G>A (SLC22A4)
NM_003059.2:c.498-85G>A (SLC22A4) NP_003050.2:n.498-85G>A
NR_110997.1:n.825-1276C>T (MIR3936HG)
XM_006714675.2:c.-31-85G>A (SLC22A4) XP_006714738.1:n.-31-85G>A
XM_011543589.1:c.394-85G>A (SLC22A4) XP_011541891.1:n.394-85G>A
XM_006714675.4:c.-31-85G>A (SLC22A4) XP_006714738.1:n.-31-85G>A
XM_011543589.2:c.394-85G>A (SLC22A4) XP_011541891.1:n.394-85G>A
XM_017009776.1:c.-31-85G>A (SLC22A4) XP_016865265.1:n.-31-85G>A
NM_003059.3:c.498-85G>A (SLC22A4) MANE Select NP_003050.2:n.498-85G>A
Search 100 bp 5'
Search 100 bp 3'