Canonical Allele Identifier: CA1081635742
Gene: SLC22A4 HGNC NCBI
MIR3936HG HGNC NCBI
gnomAD v3:
5:132340545 T / C
gnomAD v4:
chr5-132340545-T-C
Joint Max Group AF 0.00000292 (NFE)
Exomes Max Group AF 0.00000262 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132340545T>C , CM000667.2:g.132340545T>C GRCh38
NC_000005.9:g.131676238T>C , CM000667.1:g.131676238T>C GRCh37
NC_000005.8:g.131704137T>C NCBI36
NG_012129.1:g.51094T>C
NG_012129.2:g.51094T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000200652.4:c.1445-20T>C (SLC22A4) MANE Select ENSP00000200652.3:n.1445-20T>C
ENST00000200652.3:c.1445-20T>C (SLC22A4) ENSP00000200652.3:n.1445-20T>C
NM_003059.2:c.1445-20T>C (SLC22A4) NP_003050.2:n.1445-20T>C
NR_110997.1:n.561-5619A>G (MIR3936HG)
XM_006714675.2:c.917-20T>C (SLC22A4) XP_006714738.1:n.917-20T>C
XM_011543589.1:c.1169-20T>C (SLC22A4) XP_011541891.1:n.1169-20T>C
XM_006714675.4:c.917-20T>C (SLC22A4) XP_006714738.1:n.917-20T>C
XM_011543589.2:c.1169-20T>C (SLC22A4) XP_011541891.1:n.1169-20T>C
XM_017009776.1:c.917-20T>C (SLC22A4) XP_016865265.1:n.917-20T>C
NM_003059.3:c.1445-20T>C (SLC22A4) MANE Select NP_003050.2:n.1445-20T>C
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