Canonical Allele Identifier: CA219358

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 6933
• ClinVar RCV Id: RCV000007345 ; RCV000059144 ; RCV002482839
• dbSNP Id: rs121908978
• ExAC: 11:118899997 C / T
• gnomAD v2: 11-118899997-C-T
• gnomAD v4: 11-119029287-C-T
• MyVariant Identifiers: chr11:g.118899997C>T (hg19) ; chr11:g.119029287C>T (hg38)
• PubMed: PMID:10026167

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119029287C>T , CM000673.2:g.119029287C>T	GRCh38
NC_000011.9:g.118899997C>T , CM000673.1:g.118899997C>T	GRCh37
NC_000011.8:g.118405207C>T	NCBI36
NG_013331.1:g.6620G>A , LRG_187:g.6620G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.312G>A
ENST00000697846.1:n.312G>A
ENST00000697847.1:n.312G>A
ENST00000697848.1:n.312G>A
ENST00000697849.1:n.556G>A
ENST00000697850.1:n.312G>A
ENST00000697851.1:n.556G>A
ENST00000638186.1:n.386G>A
ENST00000638360.1:n.320G>A
ENST00000638925.1:n.319G>A
ENST00000650539.1:n.488G>A
ENST00000330775.9:c.83G>A	ENSP00000476242.2:p.Arg28His
ENST00000357590.9:c.83G>A	ENSP00000476176.2:p.Arg28His
ENST00000524428.5:n.83G>A
ENST00000525039.5:n.506G>A
ENST00000525102.5:n.840G>A
ENST00000525372.5:n.83G>A
ENST00000525787.1:n.378G>A
ENST00000526626.6:n.278G>A
ENST00000527992.5:n.310G>A
ENST00000529510.5:n.101G>A
ENST00000530407.5:n.197+105G>A
ENST00000532085.1:n.1577G>A
ENST00000532888.6:n.278G>A
ENST00000534384.1:n.303G>A
ENST00000538950.5:c.-172+105G>A	ENSP00000475991.2:n.-172+105G>A
ENST00000545985.5:c.83G>A	ENSP00000475241.2:p.Arg28His
NM_001164277.1:c.83G>A , LRG_187t1:c.83G>A	NP_001157749.1:p.Arg28His
NM_001164278.1:c.83G>A	NP_001157750.1:p.Arg28His
NM_001164279.1:c.-172+105G>A	NP_001157751.1:n.-172+105G>A
NM_001164280.1:c.83G>A	NP_001157752.1:p.Arg28His
NM_001467.5:c.83G>A	NP_001458.1:p.Arg28His
NM_001164278.2:c.83G>A	NP_001157750.1:p.Arg28His
NM_001164279.2:c.-172+105G>A	NP_001157751.1:n.-172+105G>A
NM_001164280.2:c.83G>A	NP_001157752.1:p.Arg28His
NM_001467.6:c.83G>A	NP_001458.1:p.Arg28His
NM_001164277.2:c.83G>A MANE Select	NP_001157749.1:p.Arg28His