Canonical Allele Identifier: CA219352

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 68291
• ClinVar RCV Id: RCV002477207
• dbSNP Id: rs193302882
• ExAC: 11:118899998 G / A
• gnomAD v2: 11-118899998-G-A
• gnomAD v3: 11-119029288-G-A
• gnomAD v4: 11-119029288-G-A
• COSMIC: COSM3359041
• MyVariant Identifiers: chr11:g.118899998G>A (hg19) ; chr11:g.119029288G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119029288G>A , CM000673.2:g.119029288G>A	GRCh38
NC_000011.9:g.118899998G>A , CM000673.1:g.118899998G>A	GRCh37
NC_000011.8:g.118405208G>A	NCBI36
NG_013331.1:g.6619C>T , LRG_187:g.6619C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000529510.6:n.311C>T
ENST00000697846.1:n.311C>T
ENST00000697847.1:n.311C>T
ENST00000697848.1:n.311C>T
ENST00000697849.1:n.555C>T
ENST00000697850.1:n.311C>T
ENST00000697851.1:n.555C>T
ENST00000638186.1:n.385C>T
ENST00000638360.1:n.319C>T
ENST00000638925.1:n.318C>T
ENST00000650539.1:n.487C>T
ENST00000330775.9:c.82C>T	ENSP00000476242.2:p.Arg28Cys
ENST00000357590.9:c.82C>T	ENSP00000476176.2:p.Arg28Cys
ENST00000524428.5:n.82C>T
ENST00000525039.5:n.505C>T
ENST00000525102.5:n.839C>T
ENST00000525372.5:n.82C>T
ENST00000525787.1:n.377C>T
ENST00000526626.6:n.277C>T
ENST00000527992.5:n.309C>T
ENST00000529510.5:n.100C>T
ENST00000530407.5:n.197+104C>T
ENST00000532085.1:n.1576C>T
ENST00000532888.6:n.277C>T
ENST00000534384.1:n.302C>T
ENST00000538950.5:c.-172+104C>T	ENSP00000475991.2:n.-172+104C>T
ENST00000545985.5:c.82C>T	ENSP00000475241.2:p.Arg28Cys
NM_001164277.1:c.82C>T , LRG_187t1:c.82C>T	NP_001157749.1:p.Arg28Cys
NM_001164278.1:c.82C>T	NP_001157750.1:p.Arg28Cys
NM_001164279.1:c.-172+104C>T	NP_001157751.1:n.-172+104C>T
NM_001164280.1:c.82C>T	NP_001157752.1:p.Arg28Cys
NM_001467.5:c.82C>T	NP_001458.1:p.Arg28Cys
NM_001164278.2:c.82C>T	NP_001157750.1:p.Arg28Cys
NM_001164279.2:c.-172+104C>T	NP_001157751.1:n.-172+104C>T
NM_001164280.2:c.82C>T	NP_001157752.1:p.Arg28Cys
NM_001467.6:c.82C>T	NP_001458.1:p.Arg28Cys
NM_001164277.2:c.82C>T MANE Select	NP_001157749.1:p.Arg28Cys