Canonical Allele Identifier: CA6311793

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 555140
• ClinVar RCV Id: RCV000670897
• dbSNP Id: rs770644132
• ExAC: 11:118898334 T / G
• gnomAD v2: 11-118898334-T-G
• gnomAD v4: 11-119027624-T-G
• MyVariant Identifiers: chr11:g.118898334T>G (hg19) ; chr11:g.119027624T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119027624T>G , CM000673.2:g.119027624T>G	GRCh38
NC_000011.9:g.118898334T>G , CM000673.1:g.118898334T>G	GRCh37
NC_000011.8:g.118403544T>G	NCBI36
NG_013331.1:g.8282A>C , LRG_187:g.8282A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.855+4A>C
ENST00000697845.1:n.779+4A>C
ENST00000697846.1:n.855+4A>C
ENST00000697847.1:n.855+4A>C
ENST00000697848.1:n.855+4A>C
ENST00000697849.1:n.1894+4A>C
ENST00000697850.1:n.855+4A>C
ENST00000697851.1:n.2215+4A>C
ENST00000638186.1:n.929+4A>C
ENST00000638360.1:n.761+4A>C
ENST00000638925.1:n.862+4A>C
ENST00000650539.1:n.1031+4A>C
ENST00000330775.9:c.625+4A>C	ENSP00000476242.2:n.625+4A>C
ENST00000357590.9:c.625+4A>C	ENSP00000476176.2:n.625+4A>C
ENST00000524428.5:n.947+4A>C
ENST00000525039.5:n.1049+4A>C
ENST00000525102.5:n.1383+4A>C
ENST00000525372.5:n.626+4A>C
ENST00000526275.5:n.1407+4A>C
ENST00000526626.6:n.588+4A>C
ENST00000527992.5:n.853+4A>C
ENST00000529510.5:n.400-529A>C
ENST00000530407.5:n.775+4A>C
ENST00000532085.1:n.3236+4A>C
ENST00000532888.6:n.921+4A>C
ENST00000538950.5:c.406+4A>C	ENSP00000475991.2:n.406+4A>C
ENST00000545985.5:c.625+4A>C	ENSP00000475241.2:n.625+4A>C
NM_001164277.1:c.625+4A>C , LRG_187t1:c.625+4A>C	NP_001157749.1:n.625+4A>C
NM_001164278.1:c.625+4A>C	NP_001157750.1:n.625+4A>C
NM_001164279.1:c.406+4A>C	NP_001157751.1:n.406+4A>C
NM_001164280.1:c.625+4A>C	NP_001157752.1:n.625+4A>C
NM_001467.5:c.625+4A>C	NP_001458.1:n.625+4A>C
NM_001164278.2:c.625+4A>C	NP_001157750.1:n.625+4A>C
NM_001164279.2:c.406+4A>C	NP_001157751.1:n.406+4A>C
NM_001164280.2:c.625+4A>C	NP_001157752.1:n.625+4A>C
NM_001467.6:c.625+4A>C	NP_001458.1:n.625+4A>C
NM_001164277.2:c.625+4A>C MANE Select	NP_001157749.1:n.625+4A>C