Canonical Allele Identifier: CA6311833

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 662747
• ClinVar RCV Id: RCV000820470
• dbSNP Id: rs769726248
• ExAC: 11:118898503 AT / A
• gnomAD v2: 11-118898503-AT-A
• gnomAD v3: 11-119027793-AT-A
• gnomAD v4: 11-119027793-AT-A
• MyVariant Identifiers: chr11:g.118898504del (hg19) ; chr11:g.119027794del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119027794del , CM000673.2:g.119027794del	GRCh38
NC_000011.9:g.118898504del , CM000673.1:g.118898504del	GRCh37
NC_000011.8:g.118403714del	NCBI36
NG_013331.1:g.8113del , LRG_187:g.8113del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.689del
ENST00000697845.1:n.613del
ENST00000697846.1:n.689del
ENST00000697847.1:n.689del
ENST00000697848.1:n.689del
ENST00000697849.1:n.1728del
ENST00000697850.1:n.689del
ENST00000697851.1:n.2049del
ENST00000638186.1:n.763del
ENST00000638360.1:n.619-24del
ENST00000638925.1:n.696del
ENST00000650539.1:n.865del
ENST00000330775.9:c.460del	ENSP00000476242.2:p.Ile154SerfsTer?
ENST00000357590.9:c.460del	ENSP00000476176.2:p.Ile154SerfsTer?
ENST00000524428.5:n.781del
ENST00000525039.5:n.883del
ENST00000525102.5:n.1217del
ENST00000525372.5:n.460del
ENST00000526275.5:n.1241del
ENST00000526626.6:n.422del
ENST00000527992.5:n.687del
ENST00000529510.5:n.399+400del
ENST00000530407.5:n.609del
ENST00000532085.1:n.3070del
ENST00000532888.6:n.755del
ENST00000538950.5:c.241del	ENSP00000475991.2:p.Ile81SerfsTer?
ENST00000545985.5:c.460del	ENSP00000475241.2:p.Ile154SerfsTer?
NM_001164277.1:c.460del , LRG_187t1:c.460del	NP_001157749.1:p.Ile154SerfsTer?
NM_001164278.1:c.460del	NP_001157750.1:p.Ile154SerfsTer?
NM_001164279.1:c.241del	NP_001157751.1:p.Ile81SerfsTer?
NM_001164280.1:c.460del	NP_001157752.1:p.Ile154SerfsTer?
NM_001467.5:c.460del	NP_001458.1:p.Ile154SerfsTer?
NM_001164278.2:c.460del	NP_001157750.1:p.Ile154SerfsTer?
NM_001164279.2:c.241del	NP_001157751.1:p.Ile81SerfsTer?
NM_001164280.2:c.460del	NP_001157752.1:p.Ile154SerfsTer?
NM_001467.6:c.460del	NP_001458.1:p.Ile154SerfsTer?
NM_001164277.2:c.460del MANE Select	NP_001157749.1:p.Ile154SerfsTer?