Canonical Allele Identifier: CA672397012

Gene: SLC37A4

Linked Data

• dbSNP Id: rs963935491
• gnomAD v4: 11-119029019-C-G
• MyVariant Identifiers: chr11:g.118899729C>G (hg19) ; chr11:g.119029019C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119029019C>G , CM000673.2:g.119029019C>G	GRCh38
NC_000011.9:g.118899729C>G , CM000673.1:g.118899729C>G	GRCh37
NC_000011.8:g.118404939C>G	NCBI36
NG_013331.1:g.6888G>C , LRG_187:g.6888G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.377+203G>C
ENST00000697846.1:n.377+203G>C
ENST00000697847.1:n.377+203G>C
ENST00000697848.1:n.377+203G>C
ENST00000697849.1:n.824G>C
ENST00000697850.1:n.377+203G>C
ENST00000697851.1:n.824G>C
ENST00000638186.1:n.451+203G>C
ENST00000638360.1:n.385+203G>C
ENST00000638925.1:n.384+203G>C
ENST00000650539.1:n.553+203G>C
ENST00000330775.9:c.148+203G>C	ENSP00000476242.2:n.148+203G>C
ENST00000357590.9:c.148+203G>C	ENSP00000476176.2:n.148+203G>C
ENST00000524428.5:n.148+203G>C
ENST00000525039.5:n.571+203G>C
ENST00000525102.5:n.905+203G>C
ENST00000525372.5:n.148+203G>C
ENST00000525787.1:n.443+203G>C
ENST00000526275.5:n.16G>C
ENST00000526626.6:n.343+203G>C
ENST00000527992.5:n.375+203G>C
ENST00000529510.5:n.166+203G>C
ENST00000530407.5:n.198-185G>C
ENST00000532085.1:n.1845G>C
ENST00000532888.6:n.344-185G>C
ENST00000534384.1:n.368+203G>C
ENST00000538950.5:c.-171-185G>C	ENSP00000475991.2:n.-171-185G>C
ENST00000545985.5:c.148+203G>C	ENSP00000475241.2:n.148+203G>C
NM_001164277.1:c.148+203G>C , LRG_187t1:c.148+203G>C	NP_001157749.1:n.148+203G>C
NM_001164278.1:c.148+203G>C	NP_001157750.1:n.148+203G>C
NM_001164279.1:c.-171-185G>C	NP_001157751.1:n.-171-185G>C
NM_001164280.1:c.148+203G>C	NP_001157752.1:n.148+203G>C
NM_001467.5:c.148+203G>C	NP_001458.1:n.148+203G>C
NM_001164278.2:c.148+203G>C	NP_001157750.1:n.148+203G>C
NM_001164279.2:c.-171-185G>C	NP_001157751.1:n.-171-185G>C
NM_001164280.2:c.148+203G>C	NP_001157752.1:n.148+203G>C
NM_001467.6:c.148+203G>C	NP_001458.1:n.148+203G>C
NM_001164277.2:c.148+203G>C MANE Select	NP_001157749.1:n.148+203G>C