Canonical Allele Identifier: CA6311710
Gene: SLC37A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1613499
ClinVar RCV Id: RCV002171298
dbSNP Id: rs199848791

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119026586C>A , CM000673.2:g.119026586C>A GRCh38
NC_000011.9:g.118897296C>A , CM000673.1:g.118897296C>A GRCh37
NC_000011.8:g.118402506C>A NCBI36
NG_013331.1:g.9320G>T , LRG_187:g.9320G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000529510.6:n.1014+351G>T
ENST00000697845.1:n.1289G>T
ENST00000697846.1:n.1014+351G>T
ENST00000697847.1:n.1117G>T
ENST00000697848.1:n.1100+17G>T
ENST00000697849.1:n.2404G>T
ENST00000697850.1:n.1100+17G>T
ENST00000697851.1:n.2708+17G>T
ENST00000638186.1:n.1174+17G>T
ENST00000638360.1:n.1006+17G>T
ENST00000638925.1:n.1124G>T
ENST00000650539.1:n.1276+17G>T
ENST00000330775.9:c.870+17G>T ENSP00000476242.2:n.870+17G>T
ENST00000357590.9:c.870+17G>T ENSP00000476176.2:n.870+17G>T
ENST00000524428.5:n.1106+351G>T
ENST00000525039.5:n.1294+17G>T
ENST00000525102.5:n.1628+17G>T
ENST00000525372.5:n.888G>T
ENST00000526275.5:n.1652+17G>T
ENST00000527992.5:n.1098+17G>T
ENST00000529510.5:n.558+351G>T
ENST00000530407.5:n.1020+17G>T
ENST00000532085.1:n.3746G>T
ENST00000538950.5:c.651+17G>T ENSP00000475991.2:n.651+17G>T
ENST00000545985.5:c.870+17G>T ENSP00000475241.2:n.870+17G>T
NM_001164277.1:c.870+17G>T , LRG_187t1:c.870+17G>T NP_001157749.1:n.870+17G>T
NM_001164278.1:c.870+17G>T NP_001157750.1:n.870+17G>T
NM_001164279.1:c.651+17G>T NP_001157751.1:n.651+17G>T
NM_001164280.1:c.870+17G>T NP_001157752.1:n.870+17G>T
NM_001467.5:c.870+17G>T NP_001458.1:n.870+17G>T
NM_001164278.2:c.870+17G>T NP_001157750.1:n.870+17G>T
NM_001164279.2:c.651+17G>T NP_001157751.1:n.651+17G>T
NM_001164280.2:c.870+17G>T NP_001157752.1:n.870+17G>T
NM_001467.6:c.870+17G>T NP_001458.1:n.870+17G>T
NM_001164277.2:c.870+17G>T MANE Select NP_001157749.1:n.870+17G>T