Canonical Allele Identifier: CA382900127

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 438654
• ClinVar RCV Id: RCV000505570
• dbSNP Id: rs1555190969
• MyVariant Identifiers: chr11:g.118897345C>G (hg19) ; chr11:g.119026635C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119026635C>G , CM000673.2:g.119026635C>G	GRCh38
NC_000011.9:g.118897345C>G , CM000673.1:g.118897345C>G	GRCh37
NC_000011.8:g.118402555C>G	NCBI36
NG_013331.1:g.9271G>C , LRG_187:g.9271G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.1014+302G>C
ENST00000697845.1:n.1240G>C
ENST00000697846.1:n.1014+302G>C
ENST00000697847.1:n.1068G>C
ENST00000697848.1:n.1068G>C
ENST00000697849.1:n.2355G>C
ENST00000697850.1:n.1068G>C
ENST00000697851.1:n.2676G>C
ENST00000638186.1:n.1142G>C
ENST00000638360.1:n.974G>C
ENST00000638925.1:n.1075G>C
ENST00000650539.1:n.1244G>C
ENST00000330775.9:c.838G>C	ENSP00000476242.2:p.Ala280Pro
ENST00000357590.9:c.838G>C	ENSP00000476176.2:p.Ala280Pro
ENST00000524428.5:n.1106+302G>C
ENST00000525039.5:n.1262G>C
ENST00000525102.5:n.1596G>C
ENST00000525372.5:n.839G>C
ENST00000526275.5:n.1620G>C
ENST00000527992.5:n.1066G>C
ENST00000529510.5:n.558+302G>C
ENST00000530407.5:n.988G>C
ENST00000532085.1:n.3697G>C
ENST00000538950.5:c.619G>C	ENSP00000475991.2:p.Ala207Pro
ENST00000545985.5:c.838G>C	ENSP00000475241.2:p.Ala280Pro
NM_001164277.1:c.838G>C , LRG_187t1:c.838G>C	NP_001157749.1:p.Ala280Pro
NM_001164278.1:c.838G>C	NP_001157750.1:p.Ala280Pro
NM_001164279.1:c.619G>C	NP_001157751.1:p.Ala207Pro
NM_001164280.1:c.838G>C	NP_001157752.1:p.Ala280Pro
NM_001467.5:c.838G>C	NP_001458.1:p.Ala280Pro
NM_001164278.2:c.838G>C	NP_001157750.1:p.Ala280Pro
NM_001164279.2:c.619G>C	NP_001157751.1:p.Ala207Pro
NM_001164280.2:c.838G>C	NP_001157752.1:p.Ala280Pro
NM_001467.6:c.838G>C	NP_001458.1:p.Ala280Pro
NM_001164277.2:c.838G>C MANE Select	NP_001157749.1:p.Ala280Pro