Canonical Allele Identifier: CA382908640

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 2820720
• ClinVar RCV Id: RCV003618531
• gnomAD v4: 11-119029304-G-C
• MyVariant Identifiers: chr11:g.118900014G>C (hg19) ; chr11:g.119029304G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119029304G>C , CM000673.2:g.119029304G>C	GRCh38
NC_000011.9:g.118900014G>C , CM000673.1:g.118900014G>C	GRCh37
NC_000011.8:g.118405224G>C	NCBI36
NG_013331.1:g.6603C>G , LRG_187:g.6603C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000529510.6:n.295C>G
ENST00000697846.1:n.295C>G
ENST00000697847.1:n.295C>G
ENST00000697848.1:n.295C>G
ENST00000697849.1:n.539C>G
ENST00000697850.1:n.295C>G
ENST00000697851.1:n.539C>G
ENST00000638186.1:n.369C>G
ENST00000638360.1:n.303C>G
ENST00000638925.1:n.302C>G
ENST00000650539.1:n.471C>G
ENST00000330775.9:c.66C>G	ENSP00000476242.2:p.Ser22Arg
ENST00000357590.9:c.66C>G	ENSP00000476176.2:p.Ser22Arg
ENST00000524428.5:n.66C>G
ENST00000525039.5:n.489C>G
ENST00000525102.5:n.823C>G
ENST00000525372.5:n.66C>G
ENST00000525787.1:n.361C>G
ENST00000526626.6:n.261C>G
ENST00000527992.5:n.293C>G
ENST00000529510.5:n.84C>G
ENST00000530407.5:n.197+88C>G
ENST00000532085.1:n.1560C>G
ENST00000532888.6:n.261C>G
ENST00000534384.1:n.286C>G
ENST00000538950.5:c.-172+88C>G	ENSP00000475991.2:n.-172+88C>G
ENST00000545985.5:c.66C>G	ENSP00000475241.2:p.Ser22Arg
NM_001164277.1:c.66C>G , LRG_187t1:c.66C>G	NP_001157749.1:p.Ser22Arg
NM_001164278.1:c.66C>G	NP_001157750.1:p.Ser22Arg
NM_001164279.1:c.-172+88C>G	NP_001157751.1:n.-172+88C>G
NM_001164280.1:c.66C>G	NP_001157752.1:p.Ser22Arg
NM_001467.5:c.66C>G	NP_001458.1:p.Ser22Arg
NM_001164278.2:c.66C>G	NP_001157750.1:p.Ser22Arg
NM_001164279.2:c.-172+88C>G	NP_001157751.1:n.-172+88C>G
NM_001164280.2:c.66C>G	NP_001157752.1:p.Ser22Arg
NM_001467.6:c.66C>G	NP_001458.1:p.Ser22Arg
NM_001164277.2:c.66C>G MANE Select	NP_001157749.1:p.Ser22Arg