Canonical Allele Identifier: CA6311810

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 1142616
• ClinVar RCV Id: RCV001480476 ; RCV002501657
• dbSNP Id: rs368678559
• ExAC: 11:118898396 A / G
• gnomAD v2: 11-118898396-A-G
• gnomAD v3: 11-119027686-A-G
• gnomAD v4: 11-119027686-A-G
• MyVariant Identifiers: chr11:g.118898396A>G (hg19) ; chr11:g.119027686A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119027686A>G , CM000673.2:g.119027686A>G	GRCh38
NC_000011.9:g.118898396A>G , CM000673.1:g.118898396A>G	GRCh37
NC_000011.8:g.118403606A>G	NCBI36
NG_013331.1:g.8220T>C , LRG_187:g.8220T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.797T>C
ENST00000697845.1:n.721T>C
ENST00000697846.1:n.797T>C
ENST00000697847.1:n.797T>C
ENST00000697848.1:n.797T>C
ENST00000697849.1:n.1836T>C
ENST00000697850.1:n.797T>C
ENST00000697851.1:n.2157T>C
ENST00000638186.1:n.871T>C
ENST00000638360.1:n.703T>C
ENST00000638925.1:n.804T>C
ENST00000650539.1:n.973T>C
ENST00000330775.9:c.567T>C	ENSP00000476242.2:p.Asn189=
ENST00000357590.9:c.567T>C	ENSP00000476176.2:p.Asn189=
ENST00000524428.5:n.889T>C
ENST00000525039.5:n.991T>C
ENST00000525102.5:n.1325T>C
ENST00000525372.5:n.568T>C
ENST00000526275.5:n.1349T>C
ENST00000526626.6:n.530T>C
ENST00000527992.5:n.795T>C
ENST00000529510.5:n.399+508T>C
ENST00000530407.5:n.717T>C
ENST00000532085.1:n.3178T>C
ENST00000532888.6:n.863T>C
ENST00000538950.5:c.348T>C	ENSP00000475991.2:p.Asn116=
ENST00000545985.5:c.567T>C	ENSP00000475241.2:p.Asn189=
NM_001164277.1:c.567T>C , LRG_187t1:c.567T>C	NP_001157749.1:p.Asn189=
NM_001164278.1:c.567T>C	NP_001157750.1:p.Asn189=
NM_001164279.1:c.348T>C	NP_001157751.1:p.Asn116=
NM_001164280.1:c.567T>C	NP_001157752.1:p.Asn189=
NM_001467.5:c.567T>C	NP_001458.1:p.Asn189=
NM_001164278.2:c.567T>C	NP_001157750.1:p.Asn189=
NM_001164279.2:c.348T>C	NP_001157751.1:p.Asn116=
NM_001164280.2:c.567T>C	NP_001157752.1:p.Asn189=
NM_001467.6:c.567T>C	NP_001458.1:p.Asn189=
NM_001164277.2:c.567T>C MANE Select	NP_001157749.1:p.Asn189=