Canonical Allele Identifier: CA6311762

Gene: SLC37A4

Linked Data

• dbSNP Id: rs782742558
• ExAC: 11:118897789 C / T
• gnomAD v2: 11-118897789-C-T
• gnomAD v4: 11-119027079-C-T
• MyVariant Identifiers: chr11:g.118897789C>T (hg19) ; chr11:g.119027079C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119027079C>T , CM000673.2:g.119027079C>T	GRCh38
NC_000011.9:g.118897789C>T , CM000673.1:g.118897789C>T	GRCh37
NC_000011.8:g.118402999C>T	NCBI36
NG_013331.1:g.8827G>A , LRG_187:g.8827G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.872G>A
ENST00000697845.1:n.796G>A
ENST00000697846.1:n.872G>A
ENST00000697847.1:n.872G>A
ENST00000697848.1:n.872G>A
ENST00000697849.1:n.1911G>A
ENST00000697850.1:n.872G>A
ENST00000697851.1:n.2232G>A
ENST00000638186.1:n.946G>A
ENST00000638360.1:n.778G>A
ENST00000638925.1:n.879G>A
ENST00000650539.1:n.1048G>A
ENST00000330775.9:c.642G>A	ENSP00000476242.2:p.Glu214=
ENST00000357590.9:c.642G>A	ENSP00000476176.2:p.Glu214=
ENST00000524428.5:n.964G>A
ENST00000525039.5:n.1066G>A
ENST00000525102.5:n.1400G>A
ENST00000525372.5:n.643G>A
ENST00000526275.5:n.1424G>A
ENST00000526626.6:n.605G>A
ENST00000527992.5:n.870G>A
ENST00000529510.5:n.416G>A
ENST00000530407.5:n.792G>A
ENST00000532085.1:n.3253G>A
ENST00000532888.6:n.938G>A
ENST00000538950.5:c.423G>A	ENSP00000475991.2:p.Glu141=
ENST00000545985.5:c.642G>A	ENSP00000475241.2:p.Glu214=
NM_001164277.1:c.642G>A , LRG_187t1:c.642G>A	NP_001157749.1:p.Glu214=
NM_001164278.1:c.642G>A	NP_001157750.1:p.Glu214=
NM_001164279.1:c.423G>A	NP_001157751.1:p.Glu141=
NM_001164280.1:c.642G>A	NP_001157752.1:p.Glu214=
NM_001467.5:c.642G>A	NP_001458.1:p.Glu214=
NM_001164278.2:c.642G>A	NP_001157750.1:p.Glu214=
NM_001164279.2:c.423G>A	NP_001157751.1:p.Glu141=
NM_001164280.2:c.642G>A	NP_001157752.1:p.Glu214=
NM_001467.6:c.642G>A	NP_001458.1:p.Glu214=
NM_001164277.2:c.642G>A MANE Select	NP_001157749.1:p.Glu214=