Canonical Allele Identifier: CA229598304

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 556507
• ClinVar RCV Id: RCV000672525
• dbSNP Id: rs925741468
• gnomAD v4: 11-119027037-C-T
• MyVariant Identifiers: chr11:g.118897747C>T (hg19) ; chr11:g.119027037C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119027037C>T , CM000673.2:g.119027037C>T	GRCh38
NC_000011.9:g.118897747C>T , CM000673.1:g.118897747C>T	GRCh37
NC_000011.8:g.118402957C>T	NCBI36
NG_013331.1:g.8869G>A , LRG_187:g.8869G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.914G>A
ENST00000697845.1:n.838G>A
ENST00000697846.1:n.914G>A
ENST00000697847.1:n.914G>A
ENST00000697848.1:n.914G>A
ENST00000697849.1:n.1953G>A
ENST00000697850.1:n.914G>A
ENST00000697851.1:n.2274G>A
ENST00000638186.1:n.988G>A
ENST00000638360.1:n.820G>A
ENST00000638925.1:n.921G>A
ENST00000650539.1:n.1090G>A
ENST00000330775.9:c.684G>A	ENSP00000476242.2:p.Val228=
ENST00000357590.9:c.684G>A	ENSP00000476176.2:p.Val228=
ENST00000524428.5:n.1006G>A
ENST00000525039.5:n.1108G>A
ENST00000525102.5:n.1442G>A
ENST00000525372.5:n.685G>A
ENST00000526275.5:n.1466G>A
ENST00000526626.6:n.647G>A
ENST00000527992.5:n.912G>A
ENST00000529510.5:n.458G>A
ENST00000530407.5:n.834G>A
ENST00000532085.1:n.3295G>A
ENST00000532888.6:n.980G>A
ENST00000538950.5:c.465G>A	ENSP00000475991.2:p.Val155=
ENST00000545985.5:c.684G>A	ENSP00000475241.2:p.Val228=
NM_001164277.1:c.684G>A , LRG_187t1:c.684G>A	NP_001157749.1:p.Val228=
NM_001164278.1:c.684G>A	NP_001157750.1:p.Val228=
NM_001164279.1:c.465G>A	NP_001157751.1:p.Val155=
NM_001164280.1:c.684G>A	NP_001157752.1:p.Val228=
NM_001467.5:c.684G>A	NP_001458.1:p.Val228=
NM_001164278.2:c.684G>A	NP_001157750.1:p.Val228=
NM_001164279.2:c.465G>A	NP_001157751.1:p.Val155=
NM_001164280.2:c.684G>A	NP_001157752.1:p.Val228=
NM_001467.6:c.684G>A	NP_001458.1:p.Val228=
NM_001164277.2:c.684G>A MANE Select	NP_001157749.1:p.Val228=