Canonical Allele Identifier: CA6311687

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 651791
• ClinVar RCV Id: RCV000807219
• dbSNP Id: rs782172072
• ExAC: 11:118896724 C / CT
• gnomAD v2: 11-118896724-C-CT
• gnomAD v4: 11-119026014-C-CT
• MyVariant Identifiers: chr11:g.118896724_118896725insT (hg19) ; chr11:g.119026014_119026015insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119026015dup , CM000673.2:g.119026015dup	GRCh38
NC_000011.9:g.118896725dup , CM000673.1:g.118896725dup	GRCh37
NC_000011.8:g.118401935dup	NCBI36
NG_013331.1:g.9891dup , LRG_187:g.9891dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.1080dup
ENST00000697845.1:n.1860dup
ENST00000697846.1:n.1080dup
ENST00000697847.1:n.1202-258dup
ENST00000697848.1:n.1166dup
ENST00000697849.1:n.2975dup
ENST00000697850.1:n.1166dup
ENST00000697851.1:n.2774dup
ENST00000638186.1:n.1240dup
ENST00000638360.1:n.1072dup
ENST00000638925.1:n.1205dup
ENST00000650539.1:n.1342dup
ENST00000330775.9:c.936dup	ENSP00000476242.2:p.Val313SerfsTer13
ENST00000357590.9:c.936dup	ENSP00000476176.2:p.Val313SerfsTer13
ENST00000524428.5:n.1172dup
ENST00000525039.5:n.1360dup
ENST00000525102.5:n.1694dup
ENST00000525372.5:n.1034dup
ENST00000526275.5:n.1718dup
ENST00000527992.5:n.1164dup
ENST00000529510.5:n.624dup
ENST00000530407.5:n.1086dup
ENST00000532085.1:n.4317dup
ENST00000538950.5:c.717dup	ENSP00000475991.2:p.Val240SerfsTer13
ENST00000545985.5:c.936dup	ENSP00000475241.2:p.Val313SerfsTer13
NM_001164277.1:c.936dup , LRG_187t1:c.936dup	NP_001157749.1:p.Val313SerfsTer13
NM_001164278.1:c.936dup	NP_001157750.1:p.Val313SerfsTer13
NM_001164279.1:c.717dup	NP_001157751.1:p.Val240SerfsTer13
NM_001164280.1:c.936dup	NP_001157752.1:p.Val313SerfsTer13
NM_001467.5:c.936dup	NP_001458.1:p.Val313SerfsTer13
NM_001164278.2:c.936dup	NP_001157750.1:p.Val313SerfsTer13
NM_001164279.2:c.717dup	NP_001157751.1:p.Val240SerfsTer13
NM_001164280.2:c.936dup	NP_001157752.1:p.Val313SerfsTer13
NM_001467.6:c.936dup	NP_001458.1:p.Val313SerfsTer13
NM_001164277.2:c.936dup MANE Select	NP_001157749.1:p.Val313SerfsTer13