Canonical Allele Identifier: CA6311812

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 595016
• ClinVar RCV Id: RCV002343595 ; RCV002485875
• dbSNP Id: rs538938823
• ExAC: 11:118898407 G / A
• gnomAD v2: 11-118898407-G-A
• gnomAD v3: 11-119027697-G-A
• gnomAD v4: 11-119027697-G-A
• MyVariant Identifiers: chr11:g.118898407G>A (hg19) ; chr11:g.119027697G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119027697G>A , CM000673.2:g.119027697G>A	GRCh38
NC_000011.9:g.118898407G>A , CM000673.1:g.118898407G>A	GRCh37
NC_000011.8:g.118403617G>A	NCBI36
NG_013331.1:g.8209C>T , LRG_187:g.8209C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000529510.6:n.786C>T
ENST00000697845.1:n.710C>T
ENST00000697846.1:n.786C>T
ENST00000697847.1:n.786C>T
ENST00000697848.1:n.786C>T
ENST00000697849.1:n.1825C>T
ENST00000697850.1:n.786C>T
ENST00000697851.1:n.2146C>T
ENST00000638186.1:n.860C>T
ENST00000638360.1:n.692C>T
ENST00000638925.1:n.793C>T
ENST00000650539.1:n.962C>T
ENST00000330775.9:c.556C>T	ENSP00000476242.2:p.Leu186Phe
ENST00000357590.9:c.556C>T	ENSP00000476176.2:p.Leu186Phe
ENST00000524428.5:n.878C>T
ENST00000525039.5:n.980C>T
ENST00000525102.5:n.1314C>T
ENST00000525372.5:n.557C>T
ENST00000526275.5:n.1338C>T
ENST00000526626.6:n.519C>T
ENST00000527992.5:n.784C>T
ENST00000529510.5:n.399+497C>T
ENST00000530407.5:n.706C>T
ENST00000532085.1:n.3167C>T
ENST00000532888.6:n.852C>T
ENST00000538950.5:c.337C>T	ENSP00000475991.2:p.Leu113Phe
ENST00000545985.5:c.556C>T	ENSP00000475241.2:p.Leu186Phe
NM_001164277.1:c.556C>T , LRG_187t1:c.556C>T	NP_001157749.1:p.Leu186Phe
NM_001164278.1:c.556C>T	NP_001157750.1:p.Leu186Phe
NM_001164279.1:c.337C>T	NP_001157751.1:p.Leu113Phe
NM_001164280.1:c.556C>T	NP_001157752.1:p.Leu186Phe
NM_001467.5:c.556C>T	NP_001458.1:p.Leu186Phe
NM_001164278.2:c.556C>T	NP_001157750.1:p.Leu186Phe
NM_001164279.2:c.337C>T	NP_001157751.1:p.Leu113Phe
NM_001164280.2:c.556C>T	NP_001157752.1:p.Leu186Phe
NM_001467.6:c.556C>T	NP_001458.1:p.Leu186Phe
NM_001164277.2:c.556C>T MANE Select	NP_001157749.1:p.Leu186Phe