Canonical Allele Identifier: CA477125825

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 2842998
• ClinVar RCV Id: RCV003617343
• MyVariant Identifiers: chr11:g.118897714T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119027004T>G , CM000673.2:g.119027004T>G	GRCh38
NC_000011.9:g.118897714T>G , CM000673.1:g.118897714T>G	GRCh37
NC_000011.8:g.118402924T>G	NCBI36
NG_013331.1:g.8902A>C , LRG_187:g.8902A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000529510.6:n.947A>C
ENST00000697845.1:n.871A>C
ENST00000697846.1:n.947A>C
ENST00000697847.1:n.947A>C
ENST00000697848.1:n.947A>C
ENST00000697849.1:n.1986A>C
ENST00000697850.1:n.947A>C
ENST00000697851.1:n.2307A>C
ENST00000638186.1:n.1021A>C
ENST00000638360.1:n.853A>C
ENST00000638925.1:n.954A>C
ENST00000650539.1:n.1123A>C
ENST00000330775.9:c.717A>C	ENSP00000476242.2:p.Val239=
ENST00000357590.9:c.717A>C	ENSP00000476176.2:p.Val239=
ENST00000524428.5:n.1039A>C
ENST00000525039.5:n.1141A>C
ENST00000525102.5:n.1475A>C
ENST00000525372.5:n.718A>C
ENST00000526275.5:n.1499A>C
ENST00000526626.6:n.680A>C
ENST00000527992.5:n.945A>C
ENST00000529510.5:n.491A>C
ENST00000530407.5:n.867A>C
ENST00000532085.1:n.3328A>C
ENST00000532888.6:n.1013A>C
ENST00000538950.5:c.498A>C	ENSP00000475991.2:p.Val166=
ENST00000545985.5:c.717A>C	ENSP00000475241.2:p.Val239=
NM_001164277.1:c.717A>C , LRG_187t1:c.717A>C	NP_001157749.1:p.Val239=
NM_001164278.1:c.717A>C	NP_001157750.1:p.Val239=
NM_001164279.1:c.498A>C	NP_001157751.1:p.Val166=
NM_001164280.1:c.717A>C	NP_001157752.1:p.Val239=
NM_001467.5:c.717A>C	NP_001458.1:p.Val239=
NM_001164278.2:c.717A>C	NP_001157750.1:p.Val239=
NM_001164279.2:c.498A>C	NP_001157751.1:p.Val166=
NM_001164280.2:c.717A>C	NP_001157752.1:p.Val239=
NM_001467.6:c.717A>C	NP_001458.1:p.Val239=
NM_001164277.2:c.717A>C MANE Select	NP_001157749.1:p.Val239=