Canonical Allele Identifier: CA254006
Gene: SLC37A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 6934
ClinVar RCV Id: RCV000007346
dbSNP Id: rs121908979

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119024957G>A , CM000673.2:g.119024957G>A GRCh38
NC_000011.9:g.118895667G>A , CM000673.1:g.118895667G>A GRCh37
NC_000011.8:g.118400877G>A NCBI36
NG_013331.1:g.10949C>T , LRG_187:g.10949C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000638186.1:n.1547C>T
ENST00000638360.1:n.1379C>T
ENST00000638925.1:n.1512C>T
ENST00000650539.1:n.1715C>T
ENST00000330775.9:c.1243C>T ENSP00000476242.2:p.Arg415Ter
ENST00000357590.9:c.1309C>T ENSP00000476176.2:p.Arg437Ter
ENST00000524428.5:n.1479C>T
ENST00000525039.5:n.1733C>T
ENST00000525102.5:n.2001C>T
ENST00000525372.5:n.1341C>T
ENST00000526275.5:n.2025C>T
ENST00000527992.5:n.1471C>T
ENST00000530407.5:n.1393C>T
ENST00000532085.1:n.5261C>T
ENST00000533058.5:c.682G>A ENSP00000432920.1:p.Val228Ile
ENST00000538950.5:c.1024C>T ENSP00000475991.2:p.Arg342Ter
ENST00000545985.5:c.1243C>T ENSP00000475241.2:p.Arg415Ter
NM_001164277.1:c.1243C>T , LRG_187t1:c.1243C>T NP_001157749.1:p.Arg415Ter
NM_001164278.1:c.1309C>T NP_001157750.1:p.Arg437Ter
NM_001164279.1:c.1024C>T NP_001157751.1:p.Arg342Ter
NM_001164280.1:c.1243C>T NP_001157752.1:p.Arg415Ter
NM_001467.5:c.1243C>T NP_001458.1:p.Arg415Ter
NM_001164278.2:c.1309C>T NP_001157750.1:p.Arg437Ter
NM_001164279.2:c.1024C>T NP_001157751.1:p.Arg342Ter
NM_001164280.2:c.1243C>T NP_001157752.1:p.Arg415Ter
NM_001467.6:c.1243C>T NP_001458.1:p.Arg415Ter
NM_001164277.2:c.1243C>T NP_001157749.1:p.Arg415Ter