Canonical Allele Identifier: CA229599248

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 1156297
• ClinVar RCV Id: RCV001498914
• dbSNP Id: rs766732034
• gnomAD v2: 11-118898541-C-A
• gnomAD v3: 11-119027831-C-A
• gnomAD v4: 11-119027831-C-A
• MyVariant Identifiers: chr11:g.118898541C>A (hg19) ; chr11:g.119027831C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119027831C>A , CM000673.2:g.119027831C>A	GRCh38
NC_000011.9:g.118898541C>A , CM000673.1:g.118898541C>A	GRCh37
NC_000011.8:g.118403751C>A	NCBI36
NG_013331.1:g.8076G>T , LRG_187:g.8076G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.652G>T
ENST00000697845.1:n.576G>T
ENST00000697846.1:n.652G>T
ENST00000697847.1:n.652G>T
ENST00000697848.1:n.652G>T
ENST00000697849.1:n.1691G>T
ENST00000697850.1:n.652G>T
ENST00000697851.1:n.2012G>T
ENST00000638186.1:n.726G>T
ENST00000638360.1:n.619-61G>T
ENST00000638925.1:n.659G>T
ENST00000650539.1:n.828G>T
ENST00000330775.9:c.423G>T	ENSP00000476242.2:p.Leu141=
ENST00000357590.9:c.423G>T	ENSP00000476176.2:p.Leu141=
ENST00000524428.5:n.744G>T
ENST00000525039.5:n.846G>T
ENST00000525102.5:n.1180G>T
ENST00000525372.5:n.423G>T
ENST00000525787.1:n.1039G>T
ENST00000526275.5:n.1204G>T
ENST00000526626.6:n.385G>T
ENST00000527992.5:n.650G>T
ENST00000529510.5:n.399+363G>T
ENST00000530407.5:n.572G>T
ENST00000532085.1:n.3033G>T
ENST00000532888.6:n.718G>T
ENST00000538950.5:c.204G>T	ENSP00000475991.2:p.Leu68=
ENST00000545985.5:c.423G>T	ENSP00000475241.2:p.Leu141=
NM_001164277.1:c.423G>T , LRG_187t1:c.423G>T	NP_001157749.1:p.Leu141=
NM_001164278.1:c.423G>T	NP_001157750.1:p.Leu141=
NM_001164279.1:c.204G>T	NP_001157751.1:p.Leu68=
NM_001164280.1:c.423G>T	NP_001157752.1:p.Leu141=
NM_001467.5:c.423G>T	NP_001458.1:p.Leu141=
NM_001164278.2:c.423G>T	NP_001157750.1:p.Leu141=
NM_001164279.2:c.204G>T	NP_001157751.1:p.Leu68=
NM_001164280.2:c.423G>T	NP_001157752.1:p.Leu141=
NM_001467.6:c.423G>T	NP_001458.1:p.Leu141=
NM_001164277.2:c.423G>T MANE Select	NP_001157749.1:p.Leu141=