Canonical Allele Identifier: CA602177782

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 558123
• ClinVar RCV Id: RCV000674349
• dbSNP Id: rs200279011
• gnomAD v2: 11-118896802-G-A
• gnomAD v4: 11-119026092-G-A
• MyVariant Identifiers: chr11:g.118896802G>A (hg19) ; chr11:g.119026092G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119026092G>A , CM000673.2:g.119026092G>A	GRCh38
NC_000011.9:g.118896802G>A , CM000673.1:g.118896802G>A	GRCh37
NC_000011.8:g.118402012G>A	NCBI36
NG_013331.1:g.9814C>T , LRG_187:g.9814C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.1015-12C>T
ENST00000697845.1:n.1783C>T
ENST00000697846.1:n.1015-12C>T
ENST00000697847.1:n.1202-335C>T
ENST00000697848.1:n.1101-12C>T
ENST00000697849.1:n.2898C>T
ENST00000697850.1:n.1101-12C>T
ENST00000697851.1:n.2709-12C>T
ENST00000638186.1:n.1175-12C>T
ENST00000638360.1:n.1007-12C>T
ENST00000638925.1:n.1140-12C>T
ENST00000650539.1:n.1277-12C>T
ENST00000330775.9:c.871-12C>T	ENSP00000476242.2:n.871-12C>T
ENST00000357590.9:c.871-12C>T	ENSP00000476176.2:n.871-12C>T
ENST00000524428.5:n.1107-12C>T
ENST00000525039.5:n.1295-12C>T
ENST00000525102.5:n.1629-12C>T
ENST00000525372.5:n.969-12C>T
ENST00000526275.5:n.1653-12C>T
ENST00000527992.5:n.1099-12C>T
ENST00000529510.5:n.559-12C>T
ENST00000530407.5:n.1021-12C>T
ENST00000532085.1:n.4240C>T
ENST00000538950.5:c.652-12C>T	ENSP00000475991.2:n.652-12C>T
ENST00000545985.5:c.871-12C>T	ENSP00000475241.2:n.871-12C>T
NM_001164277.1:c.871-12C>T , LRG_187t1:c.871-12C>T	NP_001157749.1:n.871-12C>T
NM_001164278.1:c.871-12C>T	NP_001157750.1:n.871-12C>T
NM_001164279.1:c.652-12C>T	NP_001157751.1:n.652-12C>T
NM_001164280.1:c.871-12C>T	NP_001157752.1:n.871-12C>T
NM_001467.5:c.871-12C>T	NP_001458.1:n.871-12C>T
NM_001164278.2:c.871-12C>T	NP_001157750.1:n.871-12C>T
NM_001164279.2:c.652-12C>T	NP_001157751.1:n.652-12C>T
NM_001164280.2:c.871-12C>T	NP_001157752.1:n.871-12C>T
NM_001467.6:c.871-12C>T	NP_001458.1:n.871-12C>T
NM_001164277.2:c.871-12C>T MANE Select	NP_001157749.1:n.871-12C>T