Canonical Allele Identifier: CA6311678

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 2188417
• ClinVar RCV Id: RCV002636535
• dbSNP Id: rs782743938
• ExAC: 11:118896677 C / T
• gnomAD v2: 11-118896677-C-T
• gnomAD v3: 11-119025967-C-T
• gnomAD v4: 11-119025967-C-T
• MyVariant Identifiers: chr11:g.118896677C>T (hg19) ; chr11:g.119025967C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119025967C>T , CM000673.2:g.119025967C>T	GRCh38
NC_000011.9:g.118896677C>T , CM000673.1:g.118896677C>T	GRCh37
NC_000011.8:g.118401887C>T	NCBI36
NG_013331.1:g.9939G>A , LRG_187:g.9939G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000529510.6:n.1128G>A
ENST00000697845.1:n.1908G>A
ENST00000697846.1:n.1128G>A
ENST00000697847.1:n.1202-210G>A
ENST00000697848.1:n.1214G>A
ENST00000697849.1:n.3023G>A
ENST00000697850.1:n.1214G>A
ENST00000697851.1:n.2822G>A
ENST00000638186.1:n.1288G>A
ENST00000638360.1:n.1120G>A
ENST00000638925.1:n.1253G>A
ENST00000650539.1:n.1390G>A
ENST00000330775.9:c.984G>A	ENSP00000476242.2:p.Lys328=
ENST00000357590.9:c.984G>A	ENSP00000476176.2:p.Lys328=
ENST00000524428.5:n.1220G>A
ENST00000525039.5:n.1408G>A
ENST00000525102.5:n.1742G>A
ENST00000525372.5:n.1082G>A
ENST00000526275.5:n.1766G>A
ENST00000527992.5:n.1212G>A
ENST00000529510.5:n.672G>A
ENST00000530407.5:n.1134G>A
ENST00000532085.1:n.4365G>A
ENST00000538950.5:c.765G>A	ENSP00000475991.2:p.Lys255=
ENST00000545985.5:c.984G>A	ENSP00000475241.2:p.Lys328=
NM_001164277.1:c.984G>A , LRG_187t1:c.984G>A	NP_001157749.1:p.Lys328=
NM_001164278.1:c.984G>A	NP_001157750.1:p.Lys328=
NM_001164279.1:c.765G>A	NP_001157751.1:p.Lys255=
NM_001164280.1:c.984G>A	NP_001157752.1:p.Lys328=
NM_001467.5:c.984G>A	NP_001458.1:p.Lys328=
NM_001164278.2:c.984G>A	NP_001157750.1:p.Lys328=
NM_001164279.2:c.765G>A	NP_001157751.1:p.Lys255=
NM_001164280.2:c.984G>A	NP_001157752.1:p.Lys328=
NM_001467.6:c.984G>A	NP_001458.1:p.Lys328=
NM_001164277.2:c.984G>A MANE Select	NP_001157749.1:p.Lys328=