Canonical Allele Identifier: CA658683777

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 493105
• ClinVar RCV Id: RCV000585200
• dbSNP Id: rs1555191211
• gnomAD v4: 11-119027640-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119027641dup , CM000673.2:g.119027641dup	GRCh38
NC_000011.9:g.118898351dup , CM000673.1:g.118898351dup	GRCh37
NC_000011.8:g.118403561dup	NCBI36
NG_013331.1:g.8265dup , LRG_187:g.8265dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.842dup
ENST00000697845.1:n.766dup
ENST00000697846.1:n.842dup
ENST00000697847.1:n.842dup
ENST00000697848.1:n.842dup
ENST00000697849.1:n.1881dup
ENST00000697850.1:n.842dup
ENST00000697851.1:n.2202dup
ENST00000638186.1:n.916dup
ENST00000638360.1:n.748dup
ENST00000638925.1:n.849dup
ENST00000650539.1:n.1018dup
ENST00000330775.9:c.612dup	ENSP00000476242.2:p.Glu205Ter
ENST00000357590.9:c.612dup	ENSP00000476176.2:p.Glu205Ter
ENST00000524428.5:n.934dup
ENST00000525039.5:n.1036dup
ENST00000525102.5:n.1370dup
ENST00000525372.5:n.613dup
ENST00000526275.5:n.1394dup
ENST00000526626.6:n.575dup
ENST00000527992.5:n.840dup
ENST00000529510.5:n.400-546dup
ENST00000530407.5:n.762dup
ENST00000532085.1:n.3223dup
ENST00000532888.6:n.908dup
ENST00000538950.5:c.393dup	ENSP00000475991.2:p.Glu132Ter
ENST00000545985.5:c.612dup	ENSP00000475241.2:p.Glu205Ter
NM_001164277.1:c.612dup , LRG_187t1:c.612dup	NP_001157749.1:p.Glu205Ter
NM_001164278.1:c.612dup	NP_001157750.1:p.Glu205Ter
NM_001164279.1:c.393dup	NP_001157751.1:p.Glu132Ter
NM_001164280.1:c.612dup	NP_001157752.1:p.Glu205Ter
NM_001467.5:c.612dup	NP_001458.1:p.Glu205Ter
NM_001164278.2:c.612dup	NP_001157750.1:p.Glu205Ter
NM_001164279.2:c.393dup	NP_001157751.1:p.Glu132Ter
NM_001164280.2:c.612dup	NP_001157752.1:p.Glu205Ter
NM_001467.6:c.612dup	NP_001458.1:p.Glu205Ter
NM_001164277.2:c.612dup MANE Select	NP_001157749.1:p.Glu205Ter