Canonical Allele Identifier: CA2573146985

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 1453193
• ClinVar RCV Id: RCV002000174
• dbSNP Id: rs2134638421

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119027856dup , CM000673.2:g.119027856dup	GRCh38
NC_000011.9:g.118898566dup , CM000673.1:g.118898566dup	GRCh37
NC_000011.8:g.118403776dup	NCBI36
NG_013331.1:g.8051dup , LRG_187:g.8051dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.627dup
ENST00000697845.1:n.551dup
ENST00000697846.1:n.627dup
ENST00000697847.1:n.627dup
ENST00000697848.1:n.627dup
ENST00000697849.1:n.1666dup
ENST00000697850.1:n.627dup
ENST00000697851.1:n.1987dup
ENST00000638186.1:n.701dup
ENST00000638360.1:n.619-86dup
ENST00000638925.1:n.634dup
ENST00000650539.1:n.803dup
ENST00000330775.9:c.398dup	ENSP00000476242.2:p.Phe134ValfsTer?
ENST00000357590.9:c.398dup	ENSP00000476176.2:p.Phe134ValfsTer?
ENST00000524428.5:n.719dup
ENST00000525039.5:n.821dup
ENST00000525102.5:n.1155dup
ENST00000525372.5:n.398dup
ENST00000525787.1:n.1014dup
ENST00000526275.5:n.1179dup
ENST00000526626.6:n.360dup
ENST00000527992.5:n.625dup
ENST00000529510.5:n.399+338dup
ENST00000530407.5:n.547dup
ENST00000532085.1:n.3008dup
ENST00000532888.6:n.693dup
ENST00000538950.5:c.179dup	ENSP00000475991.2:p.Phe61ValfsTer?
ENST00000545985.5:c.398dup	ENSP00000475241.2:p.Phe134ValfsTer?
NM_001164277.1:c.398dup , LRG_187t1:c.398dup	NP_001157749.1:p.Phe134ValfsTer?
NM_001164278.1:c.398dup	NP_001157750.1:p.Phe134ValfsTer?
NM_001164279.1:c.179dup	NP_001157751.1:p.Phe61ValfsTer?
NM_001164280.1:c.398dup	NP_001157752.1:p.Phe134ValfsTer?
NM_001467.5:c.398dup	NP_001458.1:p.Phe134ValfsTer?
NM_001164278.2:c.398dup	NP_001157750.1:p.Phe134ValfsTer?
NM_001164279.2:c.179dup	NP_001157751.1:p.Phe61ValfsTer?
NM_001164280.2:c.398dup	NP_001157752.1:p.Phe134ValfsTer?
NM_001467.6:c.398dup	NP_001458.1:p.Phe134ValfsTer?
NM_001164277.2:c.398dup MANE Select	NP_001157749.1:p.Phe134ValfsTer?