Canonical Allele Identifier: CA117718
Gene: SLC22A4 HGNC NCBI
MIR3936HG HGNC NCBI
COSMIC:
COSM3736366 (not active)
MyVariant.info:
GRCh38 chr5:g.132340627C>T
GRCh37 chr5:g.131676320C>T
Revel Score:
ENST00000200652 (MANE Select) 0.146
gnomAD v2:
5:131676320 C / T
gnomAD v3:
5:132340627 C / T
gnomAD v4:
chr5-132340627-C-T
Joint Max Group AF 0.42888217 (NFE)
Genomes Max Group AF 0.41342103 (NFE)
Exomes Max Group AF 0.42960829 (NFE)
ClinVar RCV:
RCV000006106
RCV001682707
ClinVar Variation:
5750
dbSNP:
1050152
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132340627C>T , CM000667.2:g.132340627C>T GRCh38
NC_000005.9:g.131676320C>T , CM000667.1:g.131676320C>T GRCh37
NC_000005.8:g.131704219C>T NCBI36
NG_012129.1:g.51176C>T
NG_012129.2:g.51176C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000200652.4:c.1507C>T (SLC22A4) MANE Select ENSP00000200652.3:p.Leu503Phe
ENST00000200652.3:c.1507C>T (SLC22A4) ENSP00000200652.3:p.Leu503Phe
NM_003059.2:c.1507C>T (SLC22A4) NP_003050.2:p.Leu503Phe
NR_110997.1:n.561-5701G>A (MIR3936HG)
XM_006714675.2:c.979C>T (SLC22A4) XP_006714738.1:p.Leu327Phe
XM_011543589.1:c.1231C>T (SLC22A4) XP_011541891.1:p.Leu411Phe
XM_006714675.4:c.979C>T (SLC22A4) XP_006714738.1:p.Leu327Phe
XM_011543589.2:c.1231C>T (SLC22A4) XP_011541891.1:p.Leu411Phe
XM_017009776.1:c.979C>T (SLC22A4) XP_016865265.1:p.Leu327Phe
NM_003059.3:c.1507C>T (SLC22A4) MANE Select NP_003050.2:p.Leu503Phe
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