Canonical Allele Identifier: CA382896782

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 555129
• ClinVar RCV Id: RCV000670883
• dbSNP Id: rs1555190637
• MyVariant Identifiers: chr11:g.118896433A>C (hg19) ; chr11:g.119025723A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119025723A>C , CM000673.2:g.119025723A>C	GRCh38
NC_000011.9:g.118896433A>C , CM000673.1:g.118896433A>C	GRCh37
NC_000011.8:g.118401643A>C	NCBI36
NG_013331.1:g.10183T>G , LRG_187:g.10183T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.1163T>G
ENST00000697845.1:n.2152T>G
ENST00000697846.1:n.1163T>G
ENST00000697847.1:n.1236T>G
ENST00000697848.1:n.1249T>G
ENST00000697849.1:n.3267T>G
ENST00000697850.1:n.1458T>G
ENST00000697851.1:n.2822+244T>G
ENST00000638186.1:n.1288+244T>G
ENST00000638360.1:n.1120+244T>G
ENST00000638925.1:n.1253+244T>G
ENST00000650539.1:n.1425T>G
ENST00000330775.9:c.984+244T>G	ENSP00000476242.2:n.984+244T>G
ENST00000357590.9:c.1019T>G	ENSP00000476176.2:p.Leu340Arg
ENST00000524428.5:n.1220+244T>G
ENST00000525039.5:n.1443T>G
ENST00000525102.5:n.1742+244T>G
ENST00000525372.5:n.1082+244T>G
ENST00000526275.5:n.1766+244T>G
ENST00000527992.5:n.1212+244T>G
ENST00000529510.5:n.672+244T>G
ENST00000530407.5:n.1134+244T>G
ENST00000532085.1:n.4609T>G
ENST00000538950.5:c.765+244T>G	ENSP00000475991.2:n.765+244T>G
ENST00000545985.5:c.984+244T>G	ENSP00000475241.2:n.984+244T>G
NM_001164277.1:c.984+244T>G , LRG_187t1:c.984+244T>G	NP_001157749.1:n.984+244T>G
NM_001164278.1:c.1019T>G	NP_001157750.1:p.Leu340Arg
NM_001164279.1:c.765+244T>G	NP_001157751.1:n.765+244T>G
NM_001164280.1:c.984+244T>G	NP_001157752.1:n.984+244T>G
NM_001467.5:c.984+244T>G	NP_001458.1:n.984+244T>G
NM_001164278.2:c.1019T>G	NP_001157750.1:p.Leu340Arg
NM_001164279.2:c.765+244T>G	NP_001157751.1:n.765+244T>G
NM_001164280.2:c.984+244T>G	NP_001157752.1:n.984+244T>G
NM_001467.6:c.984+244T>G	NP_001458.1:n.984+244T>G
NM_001164277.2:c.984+244T>G MANE Select	NP_001157749.1:n.984+244T>G