Canonical Allele Identifier: CA6311754

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 557269
• ClinVar RCV Id: RCV000673387
• dbSNP Id: rs141105181
• ExAC: 11:118897728 C / G
• gnomAD v2: 11-118897728-C-G
• gnomAD v4: 11-119027018-C-G
• MyVariant Identifiers: chr11:g.118897728C>G (hg19) ; chr11:g.119027018C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119027018C>G , CM000673.2:g.119027018C>G	GRCh38
NC_000011.9:g.118897728C>G , CM000673.1:g.118897728C>G	GRCh37
NC_000011.8:g.118402938C>G	NCBI36
NG_013331.1:g.8888G>C , LRG_187:g.8888G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.933G>C
ENST00000697845.1:n.857G>C
ENST00000697846.1:n.933G>C
ENST00000697847.1:n.933G>C
ENST00000697848.1:n.933G>C
ENST00000697849.1:n.1972G>C
ENST00000697850.1:n.933G>C
ENST00000697851.1:n.2293G>C
ENST00000638186.1:n.1007G>C
ENST00000638360.1:n.839G>C
ENST00000638925.1:n.940G>C
ENST00000650539.1:n.1109G>C
ENST00000330775.9:c.703G>C	ENSP00000476242.2:p.Val235Leu
ENST00000357590.9:c.703G>C	ENSP00000476176.2:p.Val235Leu
ENST00000524428.5:n.1025G>C
ENST00000525039.5:n.1127G>C
ENST00000525102.5:n.1461G>C
ENST00000525372.5:n.704G>C
ENST00000526275.5:n.1485G>C
ENST00000526626.6:n.666G>C
ENST00000527992.5:n.931G>C
ENST00000529510.5:n.477G>C
ENST00000530407.5:n.853G>C
ENST00000532085.1:n.3314G>C
ENST00000532888.6:n.999G>C
ENST00000538950.5:c.484G>C	ENSP00000475991.2:p.Val162Leu
ENST00000545985.5:c.703G>C	ENSP00000475241.2:p.Val235Leu
NM_001164277.1:c.703G>C , LRG_187t1:c.703G>C	NP_001157749.1:p.Val235Leu
NM_001164278.1:c.703G>C	NP_001157750.1:p.Val235Leu
NM_001164279.1:c.484G>C	NP_001157751.1:p.Val162Leu
NM_001164280.1:c.703G>C	NP_001157752.1:p.Val235Leu
NM_001467.5:c.703G>C	NP_001458.1:p.Val235Leu
NM_001164278.2:c.703G>C	NP_001157750.1:p.Val235Leu
NM_001164279.2:c.484G>C	NP_001157751.1:p.Val162Leu
NM_001164280.2:c.703G>C	NP_001157752.1:p.Val235Leu
NM_001467.6:c.703G>C	NP_001458.1:p.Val235Leu
NM_001164277.2:c.703G>C MANE Select	NP_001157749.1:p.Val235Leu